Linked Data
ClinVar Variation Id:
2154585
ClinVar RCV Id:
RCV003069357
dbSNP Id:
rs73404416
ExAC:
7:92146687 G / A
gnomAD v2:
7-92146687-G-A
gnomAD v4:
7-92517373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517373G>A , CM000669.2:g.92517373G>A | GRCh38 |
| NC_000007.13:g.92146687G>A , CM000669.1:g.92146687G>A | GRCh37 |
| NC_000007.12:g.91984623G>A | NCBI36 |
| NG_008341.1:g.16159C>T | |
| NG_008341.2:g.16159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1142C>T MANE Select | ENSP00000248633.4:p.Ala381Val | |
| ENST00000248633.8:c.1142C>T | ENSP00000248633.4:p.Ala381Val | |
| ENST00000422866.1:c.43C>T | ||
| ENST00000428214.5:c.1142C>T | ENSP00000394413.1:p.Ala381Val | |
| ENST00000438045.5:c.274-3406C>T | ENSP00000410438.1:n.274-3406C>T | |
| ENST00000484913.5:n.1181C>T | ||
| NM_000466.2:c.1142C>T | NP_000457.1:p.Ala381Val | |
| NM_001282677.1:c.1142C>T | NP_001269606.1:p.Ala381Val | |
| NM_001282678.1:c.518C>T | NP_001269607.1:p.Ala173Val | |
| XR_242246.3:n.1238C>T | ||
| XM_017012319.2:c.-525C>T | XP_016867808.1:n.-525C>T | |
| XR_001744808.2:n.252C>T | ||
| XR_242246.5:n.1189C>T | ||
| NM_000466.3:c.1142C>T MANE Select | NP_000457.1:p.Ala381Val | |
| NM_001282677.2:c.1142C>T | NP_001269606.1:p.Ala381Val | |
| NM_001282678.2:c.518C>T | NP_001269607.1:p.Ala173Val |