Linked Data
dbSNP Id:
rs78229381
ExAC:
11:113270024 C / T
gnomAD v2:
11-113270024-C-T
gnomAD v3:
11-113399302-C-T
gnomAD v4:
11-113399302-C-T
COSMIC:
COSM99048
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399302C>T , CM000673.2:g.113399302C>T | GRCh38 |
| NC_000011.9:g.113270024C>T , CM000673.1:g.113270024C>T | GRCh37 |
| NC_000011.8:g.112775234C>T | NCBI36 |
| NG_012976.1:g.16512C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303941.4:c.1333C>T MANE Select | ENSP00000306678.3:p.Arg445Cys | |
| ENST00000303941.3:c.1333C>T | ENSP00000306678.3:p.Arg445Cys | |
| NM_178510.1:c.1333C>T | NP_848605.1:p.Arg445Cys | |
| XM_011542736.1:c.1366C>T | XP_011541038.1:p.Arg456Cys | |
| XM_011542737.1:c.1336C>T | XP_011541039.1:p.Arg446Cys | |
| XM_011542738.1:c.1144C>T | XP_011541040.1:p.Arg382Cys | |
| XM_011542736.2:c.1366C>T | XP_011541038.1:p.Arg456Cys | |
| XM_011542737.2:c.1336C>T | XP_011541039.1:p.Arg446Cys | |
| XM_011542738.2:c.1144C>T | XP_011541040.1:p.Arg382Cys | |
| XM_017017475.1:c.1363C>T | XP_016872964.1:p.Arg455Cys | |
| NM_178510.2:c.1333C>T MANE Select | NP_848605.1:p.Arg445Cys |