Linked Data
ClinVar Variation Id:
587913
dbSNP Id:
rs547860186
ExAC:
1:17312730 C / T
gnomAD v2:
1-17312730-C-T
gnomAD v3:
1-16986235-C-T
gnomAD v4:
1-16986235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986235C>T , CM000663.2:g.16986235C>T | GRCh38 |
| NC_000001.10:g.17312730C>T , CM000663.1:g.17312730C>T | GRCh37 |
| NC_000001.9:g.17185317C>T | NCBI36 |
| NG_009054.1:g.30694G>A | |
| NG_029688.1:g.352G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.3529G>A MANE Select | ENSP00000327214.8:p.Gly1177Ser | |
| ENST00000326735.12:c.3529G>A | ENSP00000327214.8:p.Gly1177Ser | |
| ENST00000341676.9:c.3227G>A | ENSP00000341115.5:p.Arg1076Gln | |
| ENST00000452699.5:c.3514G>A | ENSP00000413307.1:p.Gly1172Ser | |
| ENST00000466561.1:n.1575G>A | ||
| ENST00000502418.1:c.947G>A | ENSP00000423065.1:p.Arg316Gln | |
| NM_001141973.2:c.3514G>A | NP_001135445.1:p.Gly1172Ser | |
| NM_001141974.2:c.3227G>A | NP_001135446.1:p.Arg1076Gln | |
| NM_022089.3:c.3529G>A | NP_071372.1:p.Gly1177Ser | |
| XM_005245809.1:c.3359G>A | XP_005245866.1:p.Arg1120Gln | |
| XM_005245810.1:c.3356G>A | XP_005245867.1:p.Arg1119Gln | |
| XM_005245811.1:c.3344G>A | XP_005245868.1:p.Arg1115Gln | |
| XM_005245812.1:c.3332G>A | XP_005245869.1:p.Arg1111Gln | |
| XM_005245813.1:c.3299G>A | XP_005245870.1:p.Arg1100Gln | |
| XM_005245815.1:c.3242G>A | XP_005245872.1:p.Arg1081Gln | |
| XM_006710512.1:c.3341G>A | XP_006710575.1:p.Arg1114Gln | |
| XM_006710513.1:c.3317G>A | XP_006710576.1:p.Arg1106Gln | |
| XM_011541128.1:c.3344G>A | XP_011539430.1:p.Arg1115Gln | |
| XM_011541129.1:c.3152G>A | XP_011539431.1:p.Arg1051Gln | |
| XM_017000844.1:c.3514G>A | XP_016856333.1:p.Gly1172Ser | |
| XM_017000845.1:c.3511G>A | XP_016856334.1:p.Gly1171Ser | |
| XM_017000846.1:c.3487G>A | XP_016856335.1:p.Gly1163Ser | |
| XM_017000847.1:c.3484G>A | XP_016856336.1:p.Gly1162Ser | |
| XM_017000848.1:c.3412G>A | XP_016856337.1:p.Gly1138Ser | |
| XM_017000849.1:c.3397G>A | XP_016856338.1:p.Gly1133Ser | |
| XM_017000850.1:c.3322G>A | XP_016856339.1:p.Gly1108Ser | |
| NM_022089.4:c.3529G>A MANE Select | NP_071372.1:p.Gly1177Ser | |
| NM_001141973.3:c.3514G>A | NP_001135445.1:p.Gly1172Ser | |
| NM_001141974.3:c.3227G>A | NP_001135446.1:p.Arg1076Gln |