Linked Data
ClinVar Variation Id:
235320
dbSNP Id:
rs73404416
ExAC:
7:92146687 G / T
gnomAD v2:
7-92146687-G-T
gnomAD v3:
7-92517373-G-T
gnomAD v4:
7-92517373-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517373G>T , CM000669.2:g.92517373G>T | GRCh38 |
| NC_000007.13:g.92146687G>T , CM000669.1:g.92146687G>T | GRCh37 |
| NC_000007.12:g.91984623G>T | NCBI36 |
| NG_008341.1:g.16159C>A | |
| NG_008341.2:g.16159C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1142C>A MANE Select | ENSP00000248633.4:p.Ala381Asp | |
| ENST00000248633.8:c.1142C>A | ENSP00000248633.4:p.Ala381Asp | |
| ENST00000422866.1:c.43C>A | ||
| ENST00000428214.5:c.1142C>A | ENSP00000394413.1:p.Ala381Asp | |
| ENST00000438045.5:c.274-3406C>A | ENSP00000410438.1:n.274-3406C>A | |
| ENST00000484913.5:n.1181C>A | ||
| NM_000466.2:c.1142C>A | NP_000457.1:p.Ala381Asp | |
| NM_001282677.1:c.1142C>A | NP_001269606.1:p.Ala381Asp | |
| NM_001282678.1:c.518C>A | NP_001269607.1:p.Ala173Asp | |
| XR_242246.3:n.1238C>A | ||
| XM_017012319.2:c.-525C>A | XP_016867808.1:n.-525C>A | |
| XR_001744808.2:n.252C>A | ||
| XR_242246.5:n.1189C>A | ||
| NM_000466.3:c.1142C>A MANE Select | NP_000457.1:p.Ala381Asp | |
| NM_001282677.2:c.1142C>A | NP_001269606.1:p.Ala381Asp | |
| NM_001282678.2:c.518C>A | NP_001269607.1:p.Ala173Asp |