Linked Data
ClinVar Variation Id:
279981
ClinVar RCV Id:
RCV000354221
RCV000624249
RCV001003573
RCV001262681
RCV001251120
RCV002274967
RCV004547654
dbSNP Id:
rs886041300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210920032C>T , CM000663.2:g.210920032C>T | GRCh38 |
| NC_000001.10:g.211093374C>T , CM000663.1:g.211093374C>T | GRCh37 |
| NC_000001.9:g.209159997C>T | NCBI36 |
| NG_029777.1:g.219084G>A | |
| NG_029777.2:g.219084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1070G>A MANE Select | ENSP00000271751.4:p.Arg357Gln | |
| ENST00000367007.5:c.989G>A | ENSP00000355974.5:p.Arg330Gln | |
| ENST00000638357.1:c.403G>A | ||
| ENST00000638498.1:c.1070G>A | ENSP00000490983.1:p.Arg357Gln | |
| ENST00000638960.1:c.989G>A | ENSP00000492302.1:p.Arg330Gln | |
| ENST00000638983.1:c.952-58838G>A | ENSP00000492641.1:n.952-58838G>A | |
| ENST00000639385.1:n.438G>A | ||
| ENST00000639602.1:c.860G>A | ENSP00000492303.1:p.Arg287Gln | |
| ENST00000639754.1:n.1273G>A | ||
| ENST00000639952.1:c.989G>A | ENSP00000492697.1:p.Arg330Gln | |
| ENST00000640044.1:c.311-115866G>A | ENSP00000491434.1:n.311-115866G>A | |
| ENST00000640243.1:c.951+98832G>A | ENSP00000492803.1:n.951+98832G>A | |
| ENST00000640522.1:c.1032+98751G>A | ENSP00000491019.1:n.1032+98751G>A | |
| ENST00000640528.1:c.989G>A | ENSP00000491725.1:p.Arg330Gln | |
| ENST00000640566.1:c.311-144488G>A | ENSP00000491302.1:n.311-144488G>A | |
| ENST00000640710.1:c.989G>A | ENSP00000492513.1:p.Arg330Gln | |
| ENST00000640890.1:n.1091G>A | ||
| ENST00000271751.8:c.1070G>A | ENSP00000271751.4:p.Arg357Gln | |
| ENST00000367007.4:c.989G>A | ENSP00000355974.4:p.Arg330Gln | |
| NM_002238.3:c.989G>A | NP_002229.1:p.Arg330Gln | |
| NM_172362.2:c.1070G>A | NP_758872.1:p.Arg357Gln | |
| XM_011509514.1:c.-107G>A | XP_011507816.1:n.-107G>A | |
| XM_017001246.1:c.-107G>A | XP_016856735.1:n.-107G>A | |
| NM_172362.3:c.1070G>A MANE Select | NP_758872.1:p.Arg357Gln | |
| NM_002238.4:c.989G>A | NP_002229.1:p.Arg330Gln |