Linked Data
ClinVar Variation Id:
142763
ClinVar RCV Id:
RCV000132150
RCV000228450
RCV000183224
RCV000505277
RCV000660253
RCV004554715
RCV003474784
dbSNP Id:
rs74315370
ExAC:
1:17371320 G / A
gnomAD v2:
1-17371320-G-A
gnomAD v3:
1-17044825-G-A
gnomAD v4:
1-17044825-G-A
COSMIC:
COSM677083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044825G>A , CM000663.2:g.17044825G>A | GRCh38 |
| NC_000001.10:g.17371320G>A , CM000663.1:g.17371320G>A | GRCh37 |
| NC_000001.9:g.17243907G>A | NCBI36 |
| NG_012340.1:g.14346C>T , LRG_316:g.14346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-36C>T | ENSP00000481376.2:n.-36C>T | |
| ENST00000491274.6:c.94C>T | ENSP00000480482.2:p.Arg32Ter | |
| ENST00000375499.8:c.136C>T MANE Select | ENSP00000364649.3:p.Arg46Ter | |
| ENST00000375499.7:c.136C>T | ENSP00000364649.3:p.Arg46Ter | |
| ENST00000463045.2:c.-36C>T | ENSP00000481376.1:n.-36C>T | |
| ENST00000466613.2:n.148C>T | ||
| ENST00000475506.1:n.53C>T | ||
| ENST00000485515.5:n.124C>T | ||
| ENST00000491274.5:c.94C>T | ENSP00000480482.1:p.Arg32Ter | |
| NM_003000.2:c.136C>T , LRG_316t1:c.136C>T | NP_002991.2:p.Arg46Ter | |
| NM_003000.3:c.136C>T MANE Select | NP_002991.2:p.Arg46Ter |