Linked Data
ClinVar Variation Id:
7857
ClinVar RCV Id:
RCV000008307
dbSNP Id:
rs28936696
PubMed:
PMID:15106123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61483470A>G , CM000679.2:g.61483470A>G | GRCh38 |
| NC_000017.10:g.59560831A>G , CM000679.1:g.59560831A>G | GRCh37 |
| NC_000017.9:g.56915613A>G | NCBI36 |
| NG_008080.1:g.32025A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642491.1:c.1595A>G | ENSP00000495714.1:p.Gln532Arg | |
| ENST00000644296.1:c.1595A>G MANE Select | ENSP00000495986.1:p.Gln532Arg | |
| ENST00000240335.1:c.1592A>G | ENSP00000240335.1:p.Gln531Arg | |
| ENST00000393853.8:c.1595A>G | ENSP00000377435.3:p.Gln532Arg | |
| NM_018488.2:c.1592A>G | NP_060958.2:p.Gln531Arg | |
| XM_005257835.3:c.1595A>G | XP_005257892.2:p.Gln532Arg | |
| XM_005257837.2:c.1595A>G | XP_005257894.1:p.Gln532Arg | |
| XM_011525490.1:c.1784A>G | XP_011523792.1:p.Gln595Arg | |
| XM_011525491.1:c.1781A>G | XP_011523793.1:p.Gln594Arg | |
| XM_011525492.1:c.1595A>G | XP_011523794.1:p.Gln532Arg | |
| XM_011525493.1:c.1595A>G | XP_011523795.1:p.Gln532Arg | |
| XM_011525494.1:c.1595A>G | XP_011523796.1:p.Gln532Arg | |
| NM_001321120.2:c.1595A>G MANE Select | NP_001308049.1:p.Gln532Arg | |
| NM_018488.3:c.1592A>G | NP_060958.2:p.Gln531Arg | |
| XM_011525490.2:c.1784A>G | XP_011523792.1:p.Gln595Arg | |
| XM_011525491.2:c.1781A>G | XP_011523793.1:p.Gln594Arg |