Linked Data
ClinVar Variation Id:
162462
ClinVar RCV Id:
RCV000149825
dbSNP Id:
rs724160006
gnomAD v4:
3-189995367-G-A
PubMed:
PMID:24172257
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189995367G>A , CM000665.2:g.189995367G>A | GRCh38 |
| NC_000003.11:g.189713156G>A , CM000665.1:g.189713156G>A | GRCh37 |
| NC_000003.10:g.191195850G>A | NCBI36 |
| NG_031929.1:g.132071C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319332.10:c.556C>T MANE Select | ENSP00000316881.5:p.Gln186Ter | |
| ENST00000319332.9:c.556C>T | ENSP00000316881.5:p.Gln186Ter | |
| ENST00000426003.1:c.13C>T | ENSP00000394326.1:p.Gln5Ter | |
| ENST00000427335.6:c.13C>T | ENSP00000408947.2:p.Gln5Ter | |
| ENST00000444866.5:c.13C>T | ENSP00000391374.1:p.Gln5Ter | |
| NM_001134418.1:c.13C>T | NP_001127890.1:p.Gln5Ter | |
| NM_018192.3:c.556C>T | NP_060662.2:p.Gln186Ter | |
| XM_011512955.1:c.13C>T | XP_011511257.1:p.Gln5Ter | |
| NM_018192.4:c.556C>T MANE Select | NP_060662.2:p.Gln186Ter | |
| NM_001134418.2:c.13C>T | NP_001127890.1:p.Gln5Ter |