Linked Data
dbSNP Id:
rs1455500049
gnomAD v2:
9-100437864-G-A
gnomAD v3:
9-97675582-G-A
gnomAD v4:
9-97675582-G-A
COSMIC:
COSM4741675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675582G>A , CM000671.2:g.97675582G>A | GRCh38 |
| NC_000009.11:g.100437864G>A , CM000671.1:g.100437864G>A | GRCh37 |
| NC_000009.10:g.99477685G>A | NCBI36 |
| NG_011642.1:g.26828C>T , LRG_471:g.26828C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.679C>T MANE Select | ENSP00000364270.5:p.Arg227Trp | |
| ENST00000375128.4:c.679C>T | ENSP00000364270.4:p.Arg227Trp | |
| ENST00000462523.5:c.*115C>T | ENSP00000433006.1:n.*115C>T | |
| ENST00000485042.1:n.191C>T | ||
| NM_000380.3:c.679C>T , LRG_471t1:c.679C>T | NP_000371.1:p.Arg227Trp | |
| NR_027302.1:n.1027C>T | ||
| XM_006717278.1:c.679C>T | XP_006717341.1:p.Arg227Trp | |
| XM_011518988.1:c.679C>T | XP_011517290.1:p.Arg227Trp | |
| XR_929839.1:n.1210C>T | ||
| NM_001354975.1:c.553C>T | NP_001341904.1:p.Arg185Trp | |
| NR_149091.1:n.524C>T | ||
| NR_149092.1:n.690C>T | ||
| NR_149093.1:n.1216C>T | ||
| NR_149094.1:n.1110C>T | ||
| NM_000380.4:c.679C>T MANE Select | NP_000371.1:p.Arg227Trp | |
| NM_001354975.2:c.553C>T | NP_001341904.1:p.Arg185Trp | |
| NR_027302.2:n.958C>T | ||
| NR_149091.2:n.455C>T | ||
| NR_149092.2:n.621C>T | ||
| NR_149093.2:n.1147C>T | ||
| NR_149094.2:n.1041C>T |