Linked Data
ClinVar Variation Id:
16544
ClinVar RCV Id:
RCV000018010
dbSNP Id:
rs121913053
COSMIC:
COSM5949637
PubMed:
PMID:9312129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196740712G>A , CM000663.2:g.196740712G>A | GRCh38 |
| NC_000001.10:g.196709842G>A , CM000663.1:g.196709842G>A | GRCh37 |
| NC_000001.9:g.194976465G>A | NCBI36 |
| NG_007259.1:g.93702G>A , LRG_47:g.93702G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.3142G>A | ||
| ENST00000695970.1:c.2783-1163G>A | ENSP00000512297.1:n.2783-1163G>A | |
| ENST00000695971.1:c.2855G>A | ENSP00000512298.1:p.Cys952Tyr | |
| ENST00000695972.1:c.2281G>A | ENSP00000512299.1:p.Val761Ile | |
| ENST00000695973.1:c.*1240G>A | ENSP00000512300.1:n.*1240G>A | |
| ENST00000695974.1:c.2699G>A | ENSP00000512301.1:p.Cys900Tyr | |
| ENST00000695975.1:c.*1003G>A | ENSP00000512302.1:n.*1003G>A | |
| ENST00000695976.1:c.2687G>A | ENSP00000512303.1:p.Cys896Tyr | |
| ENST00000695981.1:c.2876G>A | ENSP00000512306.1:p.Cys959Tyr | |
| ENST00000695983.1:c.2862+14G>A | ENSP00000512308.1:n.2862+14G>A | |
| ENST00000695984.1:c.884G>A | ENSP00000512309.1:p.Cys295Tyr | |
| ENST00000695986.1:c.*2527G>A | ENSP00000512311.1:n.*2527G>A | |
| ENST00000696025.1:n.2960G>A | ||
| ENST00000696026.1:c.*1158G>A | ENSP00000512335.1:n.*1158G>A | |
| ENST00000696027.1:c.2870G>A | ENSP00000512336.1:p.Cys957Tyr | |
| ENST00000696028.1:c.2876G>A | ENSP00000512337.1:p.Cys959Tyr | |
| ENST00000696029.1:c.2876G>A | ENSP00000512338.1:p.Cys959Tyr | |
| ENST00000696031.1:c.*2394G>A | ENSP00000512340.1:n.*2394G>A | |
| ENST00000696032.1:c.2876G>A | ENSP00000512341.1:p.Cys959Tyr | |
| ENST00000696033.1:c.1160-39085G>A | ENSP00000512342.1:n.1160-39085G>A | |
| ENST00000367429.9:c.2876G>A MANE Select | ENSP00000356399.4:p.Cys959Tyr | |
| ENST00000367429.8:c.2876G>A | ENSP00000356399.4:p.Cys959Tyr | |
| ENST00000466229.5:n.4892G>A | ||
| ENST00000470918.1:n.379G>A | ||
| NM_000186.3:c.2876G>A , LRG_47t1:c.2876G>A | NP_000177.2:p.Cys959Tyr | |
| XR_001737134.2:n.3062G>A | ||
| NM_000186.4:c.2876G>A MANE Select | NP_000177.2:p.Cys959Tyr |