Linked Data
dbSNP Id:
rs548499152
ExAC:
11:113269958 C / T
gnomAD v2:
11-113269958-C-T
gnomAD v3:
11-113399236-C-T
gnomAD v4:
11-113399236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399236C>T , CM000673.2:g.113399236C>T | GRCh38 |
| NC_000011.9:g.113269958C>T , CM000673.1:g.113269958C>T | GRCh37 |
| NC_000011.8:g.112775168C>T | NCBI36 |
| NG_012976.1:g.16446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303941.4:c.1267C>T MANE Select | ENSP00000306678.3:p.Arg423Ter | |
| ENST00000303941.3:c.1267C>T | ENSP00000306678.3:p.Arg423Ter | |
| NM_178510.1:c.1267C>T | NP_848605.1:p.Arg423Ter | |
| XM_011542736.1:c.1300C>T | XP_011541038.1:p.Arg434Ter | |
| XM_011542737.1:c.1270C>T | XP_011541039.1:p.Arg424Ter | |
| XM_011542738.1:c.1078C>T | XP_011541040.1:p.Arg360Ter | |
| XM_011542736.2:c.1300C>T | XP_011541038.1:p.Arg434Ter | |
| XM_011542737.2:c.1270C>T | XP_011541039.1:p.Arg424Ter | |
| XM_011542738.2:c.1078C>T | XP_011541040.1:p.Arg360Ter | |
| XM_017017475.1:c.1297C>T | XP_016872964.1:p.Arg433Ter | |
| NM_178510.2:c.1267C>T MANE Select | NP_848605.1:p.Arg423Ter |