Linked Data
ClinVar Variation Id:
4328
ClinVar RCV Id:
RCV000004573
RCV000020159
RCV000079357
RCV000762855
RCV001004125
RCV001836699
RCV003225017
RCV004554584
dbSNP Id:
rs78973108
ExAC:
1:155207244 C / T
gnomAD v2:
1-155207244-C-T
gnomAD v3:
1-155237453-C-T
gnomAD v4:
1-155237453-C-T
COSMIC:
COSM675784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155237453C>T , CM000663.2:g.155237453C>T | GRCh38 |
| NC_000001.10:g.155207244C>T , CM000663.1:g.155207244C>T | GRCh37 |
| NC_000001.9:g.153473868C>T | NCBI36 |
| NG_009783.1:g.12245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.887G>A MANE Select | ENSP00000357357.3:p.Arg296Gln | |
| ENST00000327247.9:c.887G>A | ENSP00000314508.5:p.Arg296Gln | |
| ENST00000368373.7:c.887G>A | ENSP00000357357.3:p.Arg296Gln | |
| ENST00000427500.7:c.740G>A | ENSP00000402577.2:p.Arg247Gln | |
| ENST00000428024.3:c.626G>A | ENSP00000397986.2:p.Arg209Gln | |
| ENST00000484489.5:n.340-1165G>A | ||
| ENST00000491081.5:n.492G>A | ||
| ENST00000497670.5:n.510G>A | ||
| NM_000157.3:c.887G>A | NP_000148.2:p.Arg296Gln | |
| NM_001005741.2:c.887G>A | NP_001005741.1:p.Arg296Gln | |
| NM_001005742.2:c.887G>A | NP_001005742.1:p.Arg296Gln | |
| NM_001171811.1:c.626G>A | NP_001165282.1:p.Arg209Gln | |
| NM_001171812.1:c.740G>A | NP_001165283.1:p.Arg247Gln | |
| XM_006711270.1:c.887G>A | XP_006711333.1:p.Arg296Gln | |
| XM_011509407.1:c.887G>A | XP_011507709.1:p.Arg296Gln | |
| NM_000157.4:c.887G>A MANE Select | NP_000148.2:p.Arg296Gln | |
| NM_001005741.3:c.887G>A | NP_001005741.1:p.Arg296Gln | |
| NM_001005742.3:c.887G>A | NP_001005742.1:p.Arg296Gln | |
| NM_001171811.2:c.626G>A | NP_001165282.1:p.Arg209Gln | |
| NM_001171812.2:c.740G>A | NP_001165283.1:p.Arg247Gln |