Linked Data
dbSNP Id:
rs767676919
ExAC:
2:21224867 A / T
gnomAD v2:
2-21224867-A-T
gnomAD v4:
2-21001995-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001995A>T , CM000664.2:g.21001995A>T | GRCh38 |
| NC_000002.11:g.21224867A>T , CM000664.1:g.21224867A>T | GRCh37 |
| NC_000002.10:g.21078372A>T | NCBI36 |
| NG_011793.1:g.47079T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13427T>A MANE Select | ENSP00000233242.1:p.Ile4476Lys | |
| ENST00000616098.4:c.13425T>A | ENSP00000477990.1:n.13425T>A | |
| NM_000384.2:c.13427T>A | NP_000375.2:p.Ile4476Lys | |
| XM_011532809.1:c.5870-2722T>A | XP_011531111.1:n.5870-2722T>A | |
| NM_000384.3:c.13427T>A MANE Select | NP_000375.3:p.Ile4476Lys |