Linked Data
ClinVar Variation Id:
294511
ClinVar RCV Id:
RCV000260915
RCV000315933
RCV000375168
RCV000388064
RCV000835731
RCV002294235
RCV001849179
RCV004537633
RCV003987498
dbSNP Id:
rs145975787
ExAC:
1:196709833 C / T
gnomAD v2:
1-196709833-C-T
gnomAD v3:
1-196740703-C-T
gnomAD v4:
1-196740703-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196740703C>T , CM000663.2:g.196740703C>T | GRCh38 |
| NC_000001.10:g.196709833C>T , CM000663.1:g.196709833C>T | GRCh37 |
| NC_000001.9:g.194976456C>T | NCBI36 |
| NG_007259.1:g.93693C>T , LRG_47:g.93693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.3133C>T | ||
| ENST00000695970.1:c.2783-1172C>T | ENSP00000512297.1:n.2783-1172C>T | |
| ENST00000695971.1:c.2846C>T | ENSP00000512298.1:p.Thr949Met | |
| ENST00000695972.1:c.2272C>T | ENSP00000512299.1:p.Arg758Cys | |
| ENST00000695973.1:c.*1231C>T | ENSP00000512300.1:n.*1231C>T | |
| ENST00000695974.1:c.2690C>T | ENSP00000512301.1:p.Thr897Met | |
| ENST00000695975.1:c.*994C>T | ENSP00000512302.1:n.*994C>T | |
| ENST00000695976.1:c.2678C>T | ENSP00000512303.1:p.Thr893Met | |
| ENST00000695981.1:c.2867C>T | ENSP00000512306.1:p.Thr956Met | |
| ENST00000695983.1:c.2862+5C>T | ENSP00000512308.1:n.2862+5C>T | |
| ENST00000695984.1:c.875C>T | ENSP00000512309.1:p.Thr292Met | |
| ENST00000695986.1:c.*2518C>T | ENSP00000512311.1:n.*2518C>T | |
| ENST00000696025.1:n.2951C>T | ||
| ENST00000696026.1:c.*1149C>T | ENSP00000512335.1:n.*1149C>T | |
| ENST00000696027.1:c.2861C>T | ENSP00000512336.1:p.Thr954Met | |
| ENST00000696028.1:c.2867C>T | ENSP00000512337.1:p.Thr956Met | |
| ENST00000696029.1:c.2867C>T | ENSP00000512338.1:p.Thr956Met | |
| ENST00000696031.1:c.*2385C>T | ENSP00000512340.1:n.*2385C>T | |
| ENST00000696032.1:c.2867C>T | ENSP00000512341.1:p.Thr956Met | |
| ENST00000696033.1:c.1160-39094C>T | ENSP00000512342.1:n.1160-39094C>T | |
| ENST00000367429.9:c.2867C>T MANE Select | ENSP00000356399.4:p.Thr956Met | |
| ENST00000367429.8:c.2867C>T | ENSP00000356399.4:p.Thr956Met | |
| ENST00000466229.5:n.4883C>T | ||
| ENST00000470918.1:n.370C>T | ||
| NM_000186.3:c.2867C>T , LRG_47t1:c.2867C>T | NP_000177.2:p.Thr956Met | |
| XR_001737134.2:n.3053C>T | ||
| NM_000186.4:c.2867C>T MANE Select | NP_000177.2:p.Thr956Met |