Linked Data
ClinVar Variation Id:
373025
dbSNP Id:
rs1057518150
COSMIC:
COSM168127
PubMed:
PMID:21548021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299411G>A , CM000677.2:g.38299411G>A | GRCh38 |
| NC_000015.9:g.38591612G>A , CM000677.1:g.38591612G>A | GRCh37 |
| NC_000015.8:g.36378904G>A | NCBI36 |
| NG_008980.1:g.51561G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.71G>A MANE Select | ENSP00000299084.4:p.Arg24Gln | |
| ENST00000299084.8:c.71G>A | ENSP00000299084.4:p.Arg24Gln | |
| ENST00000561205.1:n.409G>A | ||
| ENST00000561317.1:c.8G>A | ENSP00000453680.1:p.Arg3Gln | |
| NM_152594.2:c.71G>A | NP_689807.1:p.Arg24Gln | |
| XM_005254202.2:c.107G>A | XP_005254259.1:p.Arg36Gln | |
| XM_005254203.3:c.-15-22830G>A | XP_005254260.1:n.-15-22830G>A | |
| XM_011521288.1:c.8G>A | XP_011519590.1:p.Arg3Gln | |
| XM_011521289.1:c.8G>A | XP_011519591.1:p.Arg3Gln | |
| XM_011521290.1:c.8G>A | XP_011519592.1:p.Arg3Gln | |
| XM_005254202.3:c.107G>A | XP_005254259.1:p.Arg36Gln | |
| XM_011521289.3:c.8G>A | XP_011519591.1:p.Arg3Gln | |
| NM_152594.3:c.71G>A MANE Select | NP_689807.1:p.Arg24Gln |