Linked Data
dbSNP Id:
rs902231111
gnomAD v2:
3-133475800-C-T
gnomAD v3:
3-133756956-C-T
gnomAD v4:
3-133756956-C-T
COSMIC:
COSM1419186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756956C>T , CM000665.2:g.133756956C>T | GRCh38 |
| NC_000003.11:g.133475800C>T , CM000665.1:g.133475800C>T | GRCh37 |
| NC_000003.10:g.134958490C>T | NCBI36 |
| NG_013080.1:g.15824C>T | |
| NG_013080.2:g.99959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.817C>T MANE Select | ENSP00000385834.3:p.Arg273Ter | |
| ENST00000402696.7:c.817C>T | ENSP00000385834.3:p.Arg273Ter | |
| ENST00000485977.1:c.182C>T | ENSP00000418716.1:p.Pro61Leu | |
| NM_001063.3:c.817C>T | NP_001054.1:p.Arg273Ter | |
| XM_011513100.1:c.817C>T | XP_011511402.1:p.Arg273Ter | |
| NM_001354703.1:c.685C>T | NP_001341632.1:p.Arg229Ter | |
| NM_001354704.1:c.436C>T | NP_001341633.1:p.Arg146Ter | |
| NM_001063.4:c.817C>T MANE Select | NP_001054.2:p.Arg273Ter | |
| NM_001354703.2:c.685C>T | NP_001341632.2:p.Arg229Ter | |
| NM_001354704.2:c.436C>T | NP_001341633.2:p.Arg146Ter |