Linked Data
ClinVar Variation Id:
265884
dbSNP Id:
rs199859104
ExAC:
2:21238325 G / A
gnomAD v2:
2-21238325-G-A
gnomAD v3:
2-21015453-G-A
gnomAD v4:
2-21015453-G-A
COSMIC:
COSM4090901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015453G>A , CM000664.2:g.21015453G>A | GRCh38 |
| NC_000002.11:g.21238325G>A , CM000664.1:g.21238325G>A | GRCh37 |
| NC_000002.10:g.21091830G>A | NCBI36 |
| NG_011793.1:g.33621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2731C>T | ENSP00000501110.2:n.*2731C>T | |
| ENST00000673882.2:c.*2520C>T | ENSP00000501253.2:n.*2520C>T | |
| ENST00000673739.1:c.3139C>T | ENSP00000501110.1:n.3139C>T | |
| ENST00000673882.1:c.2928C>T | ENSP00000501253.1:n.2928C>T | |
| ENST00000233242.5:c.3425C>T MANE Select | ENSP00000233242.1:p.Ser1142Leu | |
| ENST00000616098.4:c.3425C>T | ENSP00000477990.1:p.Ser1142Leu | |
| NM_000384.2:c.3425C>T | NP_000375.2:p.Ser1142Leu | |
| XM_011532809.1:c.3425C>T | XP_011531111.1:p.Ser1142Leu | |
| NM_000384.3:c.3425C>T MANE Select | NP_000375.3:p.Ser1142Leu |