Linked Data
ClinVar Variation Id:
372422
ClinVar RCV Id:
RCV000414637
dbSNP Id:
rs1057517770
gnomAD v3:
2-15945894-C-T
gnomAD v4:
2-15945894-C-T
COSMIC:
COSM3895057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945894C>T , CM000664.2:g.15945894C>T | GRCh38 |
| NC_000002.11:g.16086016C>T , CM000664.1:g.16086016C>T | GRCh37 |
| NC_000002.10:g.16003467C>T | NCBI36 |
| NG_007457.1:g.10334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.541C>T | ||
| ENST00000281043.4:c.1192C>T MANE Select | ENSP00000281043.3:p.Arg398Trp | |
| ENST00000638417.1:c.559C>T | ENSP00000491476.1:p.Arg187Trp | |
| ENST00000281043.3:c.1192C>T | ENSP00000281043.3:p.Arg398Trp | |
| NM_001293228.1:c.1192C>T | NP_001280157.1:p.Arg398Trp | |
| NM_001293231.1:c.559C>T | NP_001280160.1:p.Arg187Trp | |
| NM_001293233.1:c.*1127C>T | NP_001280162.1:n.*1127C>T | |
| NM_005378.5:c.1192C>T | NP_005369.2:p.Arg398Trp | |
| NM_005378.6:c.1192C>T MANE Select | NP_005369.2:p.Arg398Trp | |
| NM_001293228.2:c.1192C>T | NP_001280157.1:p.Arg398Trp | |
| NM_001293231.2:c.559C>T | NP_001280160.1:p.Arg187Trp | |
| NM_001293233.2:c.*1127C>T | NP_001280162.1:n.*1127C>T |