Linked Data
ClinVar Variation Id:
1126285
ClinVar RCV Id:
RCV001458293
dbSNP Id:
rs760256025
ExAC:
12:103237438 G / T
gnomAD v2:
12-103237438-G-T
gnomAD v3:
12-102843660-G-T
gnomAD v4:
12-102843660-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843660G>T , CM000674.2:g.102843660G>T | GRCh38 |
| NC_000012.11:g.103237438G>T , CM000674.1:g.103237438G>T | GRCh37 |
| NC_000012.10:g.101761568G>T | NCBI36 |
| NG_008690.1:g.78943C>A | |
| NG_008690.2:g.119751C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1185C>A MANE Select | ENSP00000448059.1:p.Ala395= | |
| ENST00000307000.7:c.1170C>A | ENSP00000303500.2:p.Ala390= | |
| ENST00000549247.6:n.944C>A | ||
| ENST00000551114.2:n.847C>A | ||
| ENST00000553106.5:c.1185C>A | ENSP00000448059.1:p.Ala395= | |
| ENST00000635477.1:c.289C>A | ||
| ENST00000635528.1:n.700C>A | ||
| NM_000277.1:c.1185C>A | NP_000268.1:p.Ala395= | |
| XM_011538422.1:c.1128C>A | XP_011536724.1:p.Ala376= | |
| NM_000277.2:c.1185C>A | NP_000268.1:p.Ala395= | |
| NM_001354304.1:c.1185C>A | NP_001341233.1:p.Ala395= | |
| NM_000277.3:c.1185C>A MANE Select | NP_000268.1:p.Ala395= | |
| NM_001354304.2:c.1185C>A | NP_001341233.1:p.Ala395= |