Linked Data
dbSNP Id:
rs762597577
ExAC:
7:150699033 C / T
gnomAD v2:
7-150699033-C-T
gnomAD v3:
7-151001945-C-T
gnomAD v4:
7-151001945-C-T
COSMIC:
COSM1087305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151001945C>T , CM000669.2:g.151001945C>T | GRCh38 |
| NC_000007.13:g.150699033C>T , CM000669.1:g.150699033C>T | GRCh37 |
| NC_000007.12:g.150329966C>T | NCBI36 |
| NG_011992.1:g.15887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.1627C>T MANE Select | ENSP00000297494.3:p.Arg543Trp | |
| ENST00000297494.7:c.1627C>T | ENSP00000297494.3:p.Arg543Trp | |
| ENST00000460603.1:n.79C>T | ||
| ENST00000461406.5:c.1009C>T | ENSP00000417143.1:p.Arg337Trp | |
| ENST00000467517.1:c.1627C>T | ENSP00000420551.1:p.Arg543Trp | |
| ENST00000484524.5:c.1627C>T | ENSP00000420215.1:p.Arg543Trp | |
| NM_000603.4:c.1627C>T | NP_000594.2:p.Arg543Trp | |
| NM_001160109.1:c.1627C>T | NP_001153581.1:p.Arg543Trp | |
| NM_001160110.1:c.1627C>T | NP_001153582.1:p.Arg543Trp | |
| NM_001160111.1:c.1627C>T | NP_001153583.1:p.Arg543Trp | |
| XM_006716002.2:c.1627C>T | XP_006716065.1:p.Arg543Trp | |
| NM_000603.5:c.1627C>T MANE Select | NP_000594.2:p.Arg543Trp | |
| NM_001160109.2:c.1627C>T | NP_001153581.1:p.Arg543Trp |