Linked Data
ClinVar Variation Id:
558999
dbSNP Id:
rs544885605
ExAC:
1:17312786 C / T
gnomAD v2:
1-17312786-C-T
gnomAD v3:
1-16986291-C-T
gnomAD v4:
1-16986291-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986291C>T , CM000663.2:g.16986291C>T | GRCh38 |
| NC_000001.10:g.17312786C>T , CM000663.1:g.17312786C>T | GRCh37 |
| NC_000001.9:g.17185373C>T | NCBI36 |
| NG_009054.1:g.30638G>A | |
| NG_029688.1:g.296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.3473G>A MANE Select | ENSP00000327214.8:p.Arg1158His | |
| ENST00000326735.12:c.3473G>A | ENSP00000327214.8:p.Arg1158His | |
| ENST00000341676.9:c.3171G>A | ENSP00000341115.5:p.Ala1057= | |
| ENST00000452699.5:c.3458G>A | ENSP00000413307.1:p.Arg1153His | |
| ENST00000466561.1:n.1519G>A | ||
| ENST00000502418.1:c.891G>A | ENSP00000423065.1:p.Ala297= | |
| NM_001141973.2:c.3458G>A | NP_001135445.1:p.Arg1153His | |
| NM_001141974.2:c.3171G>A | NP_001135446.1:p.Ala1057= | |
| NM_022089.3:c.3473G>A | NP_071372.1:p.Arg1158His | |
| XM_005245809.1:c.3303G>A | XP_005245866.1:p.Ala1101= | |
| XM_005245810.1:c.3300G>A | XP_005245867.1:p.Ala1100= | |
| XM_005245811.1:c.3288G>A | XP_005245868.1:p.Ala1096= | |
| XM_005245812.1:c.3276G>A | XP_005245869.1:p.Ala1092= | |
| XM_005245813.1:c.3243G>A | XP_005245870.1:p.Ala1081= | |
| XM_005245815.1:c.3186G>A | XP_005245872.1:p.Ala1062= | |
| XM_006710512.1:c.3285G>A | XP_006710575.1:p.Ala1095= | |
| XM_006710513.1:c.3261G>A | XP_006710576.1:p.Ala1087= | |
| XM_011541128.1:c.3288G>A | XP_011539430.1:p.Ala1096= | |
| XM_011541129.1:c.3096G>A | XP_011539431.1:p.Ala1032= | |
| XM_017000844.1:c.3458G>A | XP_016856333.1:p.Arg1153His | |
| XM_017000845.1:c.3455G>A | XP_016856334.1:p.Arg1152His | |
| XM_017000846.1:c.3431G>A | XP_016856335.1:p.Arg1144His | |
| XM_017000847.1:c.3428G>A | XP_016856336.1:p.Arg1143His | |
| XM_017000848.1:c.3356G>A | XP_016856337.1:p.Arg1119His | |
| XM_017000849.1:c.3341G>A | XP_016856338.1:p.Arg1114His | |
| XM_017000850.1:c.3266G>A | XP_016856339.1:p.Arg1089His | |
| NM_022089.4:c.3473G>A MANE Select | NP_071372.1:p.Arg1158His | |
| NM_001141973.3:c.3458G>A | NP_001135445.1:p.Arg1153His | |
| NM_001141974.3:c.3171G>A | NP_001135446.1:p.Ala1057= |