Linked Data
ClinVar Variation Id:
376346
dbSNP Id:
rs751007903
ExAC:
9:139391212 G / A
gnomAD v2:
9-139391212-G-A
gnomAD v4:
9-136496760-G-A
CIViC:
CA5339772
PubMed:
PMID:20007775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136496760G>A , CM000671.2:g.136496760G>A | GRCh38 |
| NC_000009.11:g.139391212G>A , CM000671.1:g.139391212G>A | GRCh37 |
| NC_000009.10:g.138511033G>A | NCBI36 |
| NG_007458.1:g.54027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6979C>T MANE Select | ENSP00000498587.1:p.Arg2327Trp | |
| ENST00000679595.1:c.*2019C>T | ENSP00000506241.1:n.*2019C>T | |
| ENST00000679969.1:n.3575C>T | ||
| ENST00000680003.1:n.3311C>T | ||
| ENST00000680133.1:c.6865C>T | ENSP00000505319.1:p.Arg2289Trp | |
| ENST00000680218.1:c.6859C>T | ENSP00000505339.1:p.Arg2287Trp | |
| ENST00000680668.1:c.6865C>T | ENSP00000506336.1:p.Arg2289Trp | |
| ENST00000680778.1:c.4576C>T | ENSP00000506033.1:p.Arg1526Trp | |
| ENST00000680924.1:c.*4379C>T | ENSP00000506031.1:n.*4379C>T | |
| ENST00000681135.1:c.*4588C>T | ENSP00000506636.1:n.*4588C>T | |
| ENST00000681298.1:n.5084C>T | ||
| ENST00000681454.1:c.*6215C>T | ENSP00000505763.1:n.*6215C>T | |
| ENST00000277541.6:c.6979C>T | ENSP00000277541.6:p.Arg2327Trp | |
| NM_017617.3:c.6979C>T | NP_060087.3:p.Arg2327Trp | |
| XM_011518717.1:c.6280C>T | XP_011517019.1:p.Arg2094Trp | |
| NM_017617.5:c.6979C>T MANE Select | NP_060087.3:p.Arg2327Trp | |
| XM_011518717.2:c.6256C>T | XP_011517019.2:p.Arg2086Trp |