Linked Data
ClinVar Variation Id:
210910
dbSNP Id:
rs370167241
ExAC:
2:233349573 G / A
gnomAD v2:
2-233349573-G-A
gnomAD v3:
2-232484863-G-A
gnomAD v4:
2-232484863-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484863G>A , CM000664.2:g.232484863G>A | GRCh38 |
| NC_000002.11:g.233349573G>A , CM000664.1:g.233349573G>A | GRCh37 |
| NC_000002.10:g.233057817G>A | NCBI36 |
| NG_034065.1:g.7997C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304546.6:c.997C>T MANE Select | ENSP00000302051.1:p.Arg333Ter | |
| ENST00000304546.5:c.997C>T | ENSP00000302051.1:p.Arg333Ter | |
| ENST00000409941.1:c.997C>T | ENSP00000386333.1:p.Arg333Ter | |
| ENST00000482346.1:n.1308C>T | ||
| NM_001290787.1:c.997C>T | NP_001277716.1:p.Arg333Ter | |
| NM_004826.3:c.997C>T | NP_004817.2:p.Arg333Ter | |
| NM_004826.4:c.997C>T MANE Select | NP_004817.2:p.Arg333Ter | |
| NM_001290787.2:c.997C>T | NP_001277716.1:p.Arg333Ter |