Linked Data
ClinVar Variation Id:
31056
ClinVar RCV Id:
RCV000024050
dbSNP Id:
rs149258390
ExAC:
12:65702414 C / T
gnomAD v3:
12-65308634-C-T
gnomAD v4:
12-65308634-C-T
PubMed:
PMID:21185009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65308634C>T , CM000674.2:g.65308634C>T | GRCh38 |
| NC_000012.11:g.65702414C>T , CM000674.1:g.65702414C>T | GRCh37 |
| NC_000012.10:g.63988681C>T | NCBI36 |
| NG_023441.1:g.34992C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308259.10:c.55C>T MANE Select | ENSP00000312274.6:p.Arg19Ter | |
| ENST00000355192.8:c.98-18192C>T | ENSP00000347324.3:n.98-18192C>T | |
| ENST00000642404.1:c.55C>T | ENSP00000496008.1:p.Arg19Ter | |
| ENST00000642411.1:c.55C>T | ENSP00000494265.1:p.Arg19Ter | |
| ENST00000645872.1:n.395C>T | ||
| ENST00000646299.1:c.55C>T | ENSP00000494941.1:p.Arg19Ter | |
| ENST00000308259.9:c.55C>T | ENSP00000312274.5:p.Arg19Ter | |
| ENST00000355192.7:c.98-18192C>T | ENSP00000347324.3:n.98-18192C>T | |
| ENST00000535239.5:c.55C>T | ENSP00000445843.1:p.Arg19Ter | |
| ENST00000535664.5:c.55C>T | ENSP00000441650.1:p.Arg19Ter | |
| ENST00000538045.5:c.55C>T | ENSP00000442620.1:p.Arg19Ter | |
| ENST00000538725.1:n.268C>T | ||
| ENST00000540804.5:c.98-18192C>T | ENSP00000437623.1:n.98-18192C>T | |
| ENST00000541189.5:c.123-18192C>T | ||
| ENST00000541897.5:c.*68C>T | ENSP00000445051.1:n.*68C>T | |
| ENST00000614640.4:c.55C>T | ENSP00000481483.1:p.Arg19Ter | |
| NM_001031679.2:c.55C>T | NP_001026849.1:p.Arg19Ter | |
| NM_001193460.1:c.55C>T | NP_001180389.1:p.Arg19Ter | |
| NM_001193461.1:c.55C>T | NP_001180390.1:p.Arg19Ter | |
| NM_198080.3:c.98-18192C>T | NP_932346.1:n.98-18192C>T | |
| XM_024448918.1:c.55C>T | XP_024304686.1:p.Arg19Ter | |
| XM_024448919.1:c.55C>T | XP_024304687.1:p.Arg19Ter | |
| XM_024448920.1:c.55C>T | XP_024304688.1:p.Arg19Ter | |
| XM_024448921.1:c.55C>T | XP_024304689.1:p.Arg19Ter | |
| XM_024448922.1:c.230-18192C>T | XP_024304690.1:n.230-18192C>T | |
| NM_001031679.3:c.55C>T MANE Select | NP_001026849.1:p.Arg19Ter | |
| NM_001193460.2:c.55C>T | NP_001180389.1:p.Arg19Ter | |
| NM_198080.4:c.98-18192C>T | NP_932346.1:n.98-18192C>T | |
| NM_001193461.2:c.55C>T | NP_001180390.1:p.Arg19Ter |