Linked Data
ClinVar Variation Id:
237743
ClinVar RCV Id:
RCV000256285
RCV000454922
RCV000766983
RCV001142806
RCV001142807
RCV001837775
RCV002433954
dbSNP Id:
rs41288783
ExAC:
2:21242613 G / A
gnomAD v2:
2-21242613-G-A
gnomAD v3:
2-21019741-G-A
gnomAD v4:
2-21019741-G-A
COSMIC:
COSM4090905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21019741G>A , CM000664.2:g.21019741G>A | GRCh38 |
| NC_000002.11:g.21242613G>A , CM000664.1:g.21242613G>A | GRCh37 |
| NC_000002.10:g.21096118G>A | NCBI36 |
| NG_011793.1:g.29333C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2287C>T | ENSP00000501110.2:n.*2287C>T | |
| ENST00000673882.2:c.*2287C>T | ENSP00000501253.2:n.*2287C>T | |
| ENST00000673739.1:c.2695C>T | ENSP00000501110.1:n.2695C>T | |
| ENST00000673882.1:c.2695C>T | ENSP00000501253.1:n.2695C>T | |
| ENST00000233242.5:c.2981C>T MANE Select | ENSP00000233242.1:p.Pro994Leu | |
| ENST00000616098.4:c.2981C>T | ENSP00000477990.1:p.Pro994Leu | |
| NM_000384.2:c.2981C>T | NP_000375.2:p.Pro994Leu | |
| XM_011532809.1:c.2981C>T | XP_011531111.1:p.Pro994Leu | |
| NM_000384.3:c.2981C>T MANE Select | NP_000375.3:p.Pro994Leu |