Linked Data
ClinVar Variation Id:
55942
ClinVar RCV Id:
RCV000049351
dbSNP Id:
rs386833423
gnomAD v2:
4-178360778-G-A
gnomAD v4:
4-177439624-G-A
COSMIC:
COSM1053482
PubMed:
PMID:23271757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439624G>A , CM000666.2:g.177439624G>A | GRCh38 |
| NC_000004.11:g.178360778G>A , CM000666.1:g.178360778G>A | GRCh37 |
| NC_000004.10:g.178597772G>A | NCBI36 |
| NG_011845.2:g.7880C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.346C>T MANE Select | ENSP00000264595.2:p.Arg116Trp | |
| ENST00000264595.6:c.346C>T | ENSP00000264595.2:p.Arg116Trp | |
| ENST00000502310.5:c.1C>T | ENSP00000423798.1:p.Arg1Trp | |
| ENST00000506853.5:n.380C>T | ||
| ENST00000510635.1:c.42C>T | ||
| ENST00000510955.5:n.315+649C>T | ||
| NM_000027.3:c.346C>T | NP_000018.2:p.Arg116Trp | |
| NM_001171988.1:c.346C>T | NP_001165459.1:p.Arg116Trp | |
| NR_033655.1:n.474C>T | ||
| XM_006714123.2:c.346C>T | XP_006714186.1:p.Arg116Trp | |
| XR_001741155.2:n.440C>T | ||
| NM_000027.4:c.346C>T MANE Select | NP_000018.2:p.Arg116Trp | |
| NM_001171988.2:c.346C>T | NP_001165459.1:p.Arg116Trp | |
| NR_033655.2:n.408C>T |