SNP Links for Protein (Select 10835242) - SNP

Links from Protein

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Select item 14904605601.

rs1490460560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:52062575 (GRCh38)
10:53822335 (GRCh37)
Canonical SPDI:: NC_000010.11:52062574:A:C
Gene:: PRKG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.52062575A>C, NC_000010.10:g.53822335A>C, NG_029982.1:g.1076425A>C, NM_006258.4:c.879A>C, NM_006258.3:c.879A>C, NM_001098512.3:c.834A>C, NM_001098512.2:c.834A>C, NM_001374781.1:c.-331A>C, NM_001374782.1:c.879A>C, XM_011539952.3:c.879A>C, XM_011539952.2:c.879A>C, XM_011539952.1:c.879A>C, XM_017016413.2:c.576A>C, XM_017016413.1:c.576A>C

Select item 14902962002.

rs1490296200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:51907514 (GRCh38)
10:53667274 (GRCh37)
Canonical SPDI:: NC_000010.11:51907513:A:G
Gene:: PRKG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.51907514A>G, NC_000010.10:g.53667274A>G, NG_029982.1:g.921364A>G, NM_006258.4:c.706A>G, NM_006258.3:c.706A>G, NM_001098512.3:c.661A>G, NM_001098512.2:c.661A>G, NM_001374782.1:c.706A>G, XM_011539952.3:c.706A>G, XM_011539952.2:c.706A>G, XM_011539952.1:c.706A>G, XM_017016413.2:c.403A>G, XM_017016413.1:c.403A>G, NP_006249.1:p.Thr236Ala, NP_001091982.1:p.Thr221Ala, NP_001361711.1:p.Thr236Ala, XP_011538254.1:p.Thr236Ala, XP_016871902.1:p.Thr135Ala

Select item 14900810553.

rs1490081055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:52133885 (GRCh38)
10:53893645 (GRCh37)
Canonical SPDI:: NC_000010.11:52133884:C:T
Gene:: PRKG1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.52133885C>T, NC_000010.10:g.53893645C>T, NG_029982.1:g.1147735C>T, NM_006258.4:c.981C>T, NM_006258.3:c.981C>T, NM_001098512.3:c.936C>T, NM_001098512.2:c.936C>T, NM_001374781.1:c.-229C>T, XM_011539952.3:c.981C>T, XM_011539952.2:c.981C>T, XM_011539952.1:c.981C>T, XM_017016413.2:c.678C>T, XM_017016413.1:c.678C>T

Select item 14873094614.

rs1487309461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:51153312 (GRCh38)
10:52913072 (GRCh37)
Canonical SPDI:: NC_000010.11:51153311:C:G,NC_000010.11:51153311:C:T
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.51153312C>G, NC_000010.11:g.51153312C>T, NC_000010.10:g.52913072C>G, NC_000010.10:g.52913072C>T, NG_029982.1:g.167162C>G, NG_029982.1:g.167162C>T, NM_006258.4:c.460C>G, NM_006258.4:c.460C>T, NM_006258.3:c.460C>G, NM_006258.3:c.460C>T, NM_001098512.3:c.415C>G, NM_001098512.3:c.415C>T, NM_001098512.2:c.415C>G, NM_001098512.2:c.415C>T, NM_001374782.1:c.460C>G, NM_001374782.1:c.460C>T, XM_011539952.3:c.460C>G, XM_011539952.3:c.460C>T, XM_011539952.2:c.460C>G, XM_011539952.2:c.460C>T, XM_011539952.1:c.460C>G, XM_011539952.1:c.460C>T, XM_017016413.2:c.157C>G, XM_017016413.2:c.157C>T, XM_017016413.1:c.157C>G, XM_017016413.1:c.157C>T, NP_006249.1:p.Leu154Val, NP_001091982.1:p.Leu139Val, NP_001361711.1:p.Leu154Val, XP_011538254.1:p.Leu154Val, XP_016871902.1:p.Leu53Val

Select item 14839761505.

rs1483976150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:52251587 (GRCh38)
10:54011347 (GRCh37)
Canonical SPDI:: NC_000010.11:52251586:C:A
Gene:: PRKG1 (Varview), LOC124902425 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52251587C>A, NC_000010.10:g.54011347C>A, NG_029982.1:g.1265437C>A, NM_006258.4:c.1094C>A, NM_006258.3:c.1094C>A, NM_001098512.3:c.1049C>A, NM_001098512.2:c.1049C>A, NM_001374781.1:c.-116C>A, XM_017016413.2:c.791C>A, XM_017016413.1:c.791C>A, NP_006249.1:p.Ala365Asp, NP_001091982.1:p.Ala350Asp, XP_016871902.1:p.Ala264Asp

Select item 14820110296.

rs1482011029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:52288742 (GRCh38)
10:54048502 (GRCh37)
Canonical SPDI:: NC_000010.11:52288741:C:G,NC_000010.11:52288741:C:T
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.52288742C>G, NC_000010.11:g.52288742C>T, NC_000010.10:g.54048502C>G, NC_000010.10:g.54048502C>T, NG_029982.1:g.1302592C>G, NG_029982.1:g.1302592C>T, NM_006258.4:c.1726C>G, NM_006258.4:c.1726C>T, NM_006258.3:c.1726C>G, NM_006258.3:c.1726C>T, NM_001098512.3:c.1681C>G, NM_001098512.3:c.1681C>T, NM_001098512.2:c.1681C>G, NM_001098512.2:c.1681C>T, NM_001374781.1:c.517C>G, NM_001374781.1:c.517C>T, XM_017016413.2:c.1423C>G, XM_017016413.2:c.1423C>T, XM_017016413.1:c.1423C>G, XM_017016413.1:c.1423C>T, NP_006249.1:p.Pro576Ala, NP_006249.1:p.Pro576Ser, NP_001091982.1:p.Pro561Ala, NP_001091982.1:p.Pro561Ser, NP_001361710.1:p.Pro173Ala, NP_001361710.1:p.Pro173Ser, XP_016871902.1:p.Pro475Ala, XP_016871902.1:p.Pro475Ser

Select item 14785264247.

rs1478526424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:52288795 (GRCh38)
10:54048555 (GRCh37)
Canonical SPDI:: NC_000010.11:52288794:A:G
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52288795A>G, NC_000010.10:g.54048555A>G, NG_029982.1:g.1302645A>G, NM_006258.4:c.1779A>G, NM_006258.3:c.1779A>G, NM_001098512.3:c.1734A>G, NM_001098512.2:c.1734A>G, NM_001374781.1:c.570A>G, XM_017016413.2:c.1476A>G, XM_017016413.1:c.1476A>G

Select item 14770521558.

rs1477052155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:52251651 (GRCh38)
10:54011411 (GRCh37)
Canonical SPDI:: NC_000010.11:52251650:C:T
Gene:: PRKG1 (Varview), LOC124902425 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52251651C>T, NC_000010.10:g.54011411C>T, NG_029982.1:g.1265501C>T, NM_006258.4:c.1158C>T, NM_006258.3:c.1158C>T, NM_001098512.3:c.1113C>T, NM_001098512.2:c.1113C>T, NM_001374781.1:c.-52C>T, XM_017016413.2:c.855C>T, XM_017016413.1:c.855C>T

Select item 14747379769.

rs1474737976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:51153283 (GRCh38)
10:52913043 (GRCh37)
Canonical SPDI:: NC_000010.11:51153282:G:A,NC_000010.11:51153282:G:C
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.51153283G>A, NC_000010.11:g.51153283G>C, NC_000010.10:g.52913043G>A, NC_000010.10:g.52913043G>C, NG_029982.1:g.167133G>A, NG_029982.1:g.167133G>C, NM_006258.4:c.431G>A, NM_006258.4:c.431G>C, NM_006258.3:c.431G>A, NM_006258.3:c.431G>C, NM_001098512.3:c.386G>A, NM_001098512.3:c.386G>C, NM_001098512.2:c.386G>A, NM_001098512.2:c.386G>C, NM_001374782.1:c.431G>A, NM_001374782.1:c.431G>C, XM_011539952.3:c.431G>A, XM_011539952.3:c.431G>C, XM_011539952.2:c.431G>A, XM_011539952.2:c.431G>C, XM_011539952.1:c.431G>A, XM_011539952.1:c.431G>C, XM_017016413.2:c.128G>A, XM_017016413.2:c.128G>C, XM_017016413.1:c.128G>A, XM_017016413.1:c.128G>C, NP_006249.1:p.Cys144Tyr, NP_006249.1:p.Cys144Ser, NP_001091982.1:p.Cys129Tyr, NP_001091982.1:p.Cys129Ser, NP_001361711.1:p.Cys144Tyr, NP_001361711.1:p.Cys144Ser, XP_011538254.1:p.Cys144Tyr, XP_011538254.1:p.Cys144Ser, XP_016871902.1:p.Cys43Tyr, XP_016871902.1:p.Cys43Ser

Select item 147169009710.

rs1471690097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:52161937 (GRCh38)
10:53921697 (GRCh37)
Canonical SPDI:: NC_000010.11:52161936:A:T
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.52161937A>T, NC_000010.10:g.53921697A>T, NG_029982.1:g.1175787A>T, NM_006258.4:c.1050A>T, NM_006258.3:c.1050A>T, NM_001098512.3:c.1005A>T, NM_001098512.2:c.1005A>T, NM_001374781.1:c.-160A>T, XM_011539952.3:c.1050A>T, XM_011539952.2:c.1050A>T, XM_011539952.1:c.1050A>T, XM_017016413.2:c.747A>T, XM_017016413.1:c.747A>T

Select item 147157588311.

rs1471575883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:52280918 (GRCh38)
10:54040678 (GRCh37)
Canonical SPDI:: NC_000010.11:52280917:T:C
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.52280918T>C, NC_000010.10:g.54040678T>C, NG_029982.1:g.1294768T>C, NM_006258.4:c.1533T>C, NM_006258.3:c.1533T>C, NM_001098512.3:c.1488T>C, NM_001098512.2:c.1488T>C, NM_001374781.1:c.324T>C, XM_017016413.2:c.1230T>C, XM_017016413.1:c.1230T>C

Select item 147080535312.

rs1470805353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:51467757 (GRCh38)
10:53227517 (GRCh37)
Canonical SPDI:: NC_000010.11:51467756:G:A
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.51467757G>A, NC_000010.10:g.53227517G>A, NG_029982.1:g.481607G>A, NM_006258.4:c.513G>A, NM_006258.3:c.513G>A, NM_001098512.3:c.468G>A, NM_001098512.2:c.468G>A, NM_001374782.1:c.513G>A, XM_011539952.3:c.513G>A, XM_011539952.2:c.513G>A, XM_011539952.1:c.513G>A, XM_017016413.2:c.210G>A, XM_017016413.1:c.210G>A

Select item 146897356113.

rs1468973561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:52272455 (GRCh38)
10:54032215 (GRCh37)
Canonical SPDI:: NC_000010.11:52272454:A:G
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000077/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.52272455A>G, NC_000010.10:g.54032215A>G, NG_029982.1:g.1286305A>G, NM_006258.4:c.1377A>G, NM_006258.3:c.1377A>G, NM_001098512.3:c.1332A>G, NM_001098512.2:c.1332A>G, NM_001374781.1:c.168A>G, XM_017016413.2:c.1074A>G, XM_017016413.1:c.1074A>G

Select item 146895221514.

rs1468952215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:51804675 (GRCh38)
10:53564435 (GRCh37)
Canonical SPDI:: NC_000010.11:51804674:T:C
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.51804675T>C, NC_000010.10:g.53564435T>C, NG_029982.1:g.818525T>C, NM_006258.4:c.683T>C, NM_006258.3:c.683T>C, NM_001098512.3:c.638T>C, NM_001098512.2:c.638T>C, NM_001374782.1:c.683T>C, XM_011539952.3:c.683T>C, XM_011539952.2:c.683T>C, XM_011539952.1:c.683T>C, XM_017016413.2:c.380T>C, XM_017016413.1:c.380T>C, NP_006249.1:p.Met228Thr, NP_001091982.1:p.Met213Thr, NP_001361711.1:p.Met228Thr, XP_011538254.1:p.Met228Thr, XP_016871902.1:p.Met127Thr

Select item 146667045815.

rs1466670458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:51804635 (GRCh38)
10:53564395 (GRCh37)
Canonical SPDI:: NC_000010.11:51804634:A:G
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.51804635A>G, NC_000010.10:g.53564395A>G, NG_029982.1:g.818485A>G, NM_006258.4:c.643A>G, NM_006258.3:c.643A>G, NM_001098512.3:c.598A>G, NM_001098512.2:c.598A>G, NM_001374782.1:c.643A>G, XM_011539952.3:c.643A>G, XM_011539952.2:c.643A>G, XM_011539952.1:c.643A>G, XM_017016413.2:c.340A>G, XM_017016413.1:c.340A>G, NP_006249.1:p.Ile215Val, NP_001091982.1:p.Ile200Val, NP_001361711.1:p.Ile215Val, XP_011538254.1:p.Ile215Val, XP_016871902.1:p.Ile114Val

Select item 146356778016.

rs1463567780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:52271430 (GRCh38)
10:54031190 (GRCh37)
Canonical SPDI:: NC_000010.11:52271429:G:T
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.52271430G>T, NC_000010.10:g.54031190G>T, NG_029982.1:g.1285280G>T, NM_006258.4:c.1254G>T, NM_006258.3:c.1254G>T, NM_001098512.3:c.1209G>T, NM_001098512.2:c.1209G>T, NM_001374781.1:c.45G>T, XM_017016413.2:c.951G>T, XM_017016413.1:c.951G>T, NP_006249.1:p.Gln418His, NP_001091982.1:p.Gln403His, NP_001361710.1:p.Gln15His, XP_016871902.1:p.Gln317His

Select item 146263240017.

rs1462632400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:52161930 (GRCh38)
10:53921690 (GRCh37)
Canonical SPDI:: NC_000010.11:52161929:A:C
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52161930A>C, NC_000010.10:g.53921690A>C, NG_029982.1:g.1175780A>C, NM_006258.4:c.1043A>C, NM_006258.3:c.1043A>C, NM_001098512.3:c.998A>C, NM_001098512.2:c.998A>C, NM_001374781.1:c.-167A>C, XM_011539952.3:c.1043A>C, XM_011539952.2:c.1043A>C, XM_011539952.1:c.1043A>C, XM_017016413.2:c.740A>C, XM_017016413.1:c.740A>C, NP_006249.1:p.Asn348Thr, NP_001091982.1:p.Asn333Thr, XP_011538254.1:p.Asn348Thr, XP_016871902.1:p.Asn247Thr

Select item 146259079218.

rs1462590792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:52280903 (GRCh38)
10:54040663 (GRCh37)
Canonical SPDI:: NC_000010.11:52280902:C:A,NC_000010.11:52280902:C:T
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.52280903C>A, NC_000010.11:g.52280903C>T, NC_000010.10:g.54040663C>A, NC_000010.10:g.54040663C>T, NG_029982.1:g.1294753C>A, NG_029982.1:g.1294753C>T, NM_006258.4:c.1518C>A, NM_006258.4:c.1518C>T, NM_006258.3:c.1518C>A, NM_006258.3:c.1518C>T, NM_001098512.3:c.1473C>A, NM_001098512.3:c.1473C>T, NM_001098512.2:c.1473C>A, NM_001098512.2:c.1473C>T, NM_001374781.1:c.309C>A, NM_001374781.1:c.309C>T, XM_017016413.2:c.1215C>A, XM_017016413.2:c.1215C>T, XM_017016413.1:c.1215C>A, XM_017016413.1:c.1215C>T

Select item 146017489319.

rs1460174893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:51074738 (GRCh38)
10:52834498 (GRCh37)
Canonical SPDI:: NC_000010.11:51074737:C:G
Gene:: PRKG1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.51074738C>G, NC_000010.10:g.52834498C>G, NG_029982.1:g.88588C>G, NM_006258.4:c.148C>G, NM_006258.3:c.148C>G, NM_001374782.1:c.148C>G, XM_011539952.3:c.148C>G, XM_011539952.2:c.148C>G, XM_011539952.1:c.148C>G, XM_017016413.2:c.-375C>G, NP_006249.1:p.Arg50Gly, NP_001361711.1:p.Arg50Gly, XP_011538254.1:p.Arg50Gly

Select item 145960063220.

rs1459600632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:51074642 (GRCh38)
10:52834402 (GRCh37)
Canonical SPDI:: NC_000010.11:51074641:C:G,NC_000010.11:51074641:C:T
Gene:: PRKG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.51074642C>G, NC_000010.11:g.51074642C>T, NC_000010.10:g.52834402C>G, NC_000010.10:g.52834402C>T, NG_029982.1:g.88492C>G, NG_029982.1:g.88492C>T, NM_006258.4:c.52C>G, NM_006258.4:c.52C>T, NM_006258.3:c.52C>G, NM_006258.3:c.52C>T, NM_001374782.1:c.52C>G, NM_001374782.1:c.52C>T, XM_011539952.3:c.52C>G, XM_011539952.3:c.52C>T, XM_011539952.2:c.52C>G, XM_011539952.2:c.52C>T, XM_011539952.1:c.52C>G, XM_011539952.1:c.52C>T, XM_017016413.2:c.-471C>G, XM_017016413.2:c.-471C>T, NP_006249.1:p.Leu18Val, NP_001361711.1:p.Leu18Val, XP_011538254.1:p.Leu18Val

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