Linked Data
ClinVar Variation Id:
425414
dbSNP Id:
rs767529359
ExAC:
7:70229818 C / A
gnomAD v2:
7-70229818-C-A
gnomAD v3:
7-70764832-C-A
gnomAD v4:
7-70764832-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70764832C>A , CM000669.2:g.70764832C>A | GRCh38 |
| NC_000007.13:g.70229818C>A , CM000669.1:g.70229818C>A | GRCh37 |
| NC_000007.12:g.69867754C>A | NCBI36 |
| NG_034133.1:g.1170914C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.1295C>A MANE Select | ENSP00000344087.4:p.Pro432His | |
| ENST00000443672.2:c.-197-1282C>A | ENSP00000393548.2:n.-197-1282C>A | |
| ENST00000644359.1:c.-80C>A | ENSP00000494561.1:n.-80C>A | |
| ENST00000644506.1:c.-80C>A | ENSP00000496672.1:n.-80C>A | |
| ENST00000644939.1:c.1292C>A | ENSP00000496726.1:p.Pro431His | |
| ENST00000647140.1:c.139C>A | ||
| ENST00000656200.1:c.-80C>A | ENSP00000499508.1:n.-80C>A | |
| ENST00000342771.8:c.1295C>A | ENSP00000344087.4:p.Pro432His | |
| ENST00000406775.6:c.1295C>A | ENSP00000385263.2:p.Pro432His | |
| ENST00000611706.4:c.551C>A | ENSP00000478134.1:p.Pro184His | |
| ENST00000615871.4:c.551C>A | ENSP00000479325.1:p.Pro184His | |
| NM_001127231.2:c.1295C>A | NP_001120703.1:p.Pro432His | |
| NM_015570.3:c.1295C>A | NP_056385.1:p.Pro432His | |
| XM_005250257.1:c.-80C>A | XP_005250314.1:n.-80C>A | |
| XM_011516010.1:c.1295C>A | XP_011514312.1:p.Pro432His | |
| XM_011516011.1:c.1292C>A | XP_011514313.1:p.Pro431His | |
| XM_011516012.1:c.1295C>A | XP_011514314.1:p.Pro432His | |
| XM_011516013.1:c.1295C>A | XP_011514315.1:p.Pro432His | |
| XM_011516014.1:c.1295C>A | XP_011514316.1:p.Pro432His | |
| XM_011516015.1:c.1295C>A | XP_011514317.1:p.Pro432His | |
| XM_011516016.1:c.1004C>A | XP_011514318.1:p.Pro335His | |
| XM_011516017.1:c.821C>A | XP_011514319.1:p.Pro274His | |
| XM_011516018.1:c.794C>A | XP_011514320.1:p.Pro265His | |
| XM_005250257.2:c.-80C>A | XP_005250314.1:n.-80C>A | |
| XM_011516010.2:c.1295C>A | XP_011514312.1:p.Pro432His | |
| XM_011516011.2:c.1292C>A | XP_011514313.1:p.Pro431His | |
| XM_011516012.2:c.1295C>A | XP_011514314.1:p.Pro432His | |
| XM_011516013.2:c.1295C>A | XP_011514315.1:p.Pro432His | |
| XM_011516014.2:c.1295C>A | XP_011514316.1:p.Pro432His | |
| XM_011516017.2:c.821C>A | XP_011514319.1:p.Pro274His | |
| XM_011516018.2:c.794C>A | XP_011514320.1:p.Pro265His | |
| XM_017011951.2:c.1295C>A | XP_016867440.1:p.Pro432His | |
| NM_001127231.3:c.1295C>A | NP_001120703.1:p.Pro432His | |
| NM_015570.4:c.1295C>A MANE Select | NP_056385.1:p.Pro432His |