Linked Data
ClinVar Variation Id:
536691
ClinVar RCV Id:
RCV000645299
dbSNP Id:
rs1427402192
gnomAD v2:
15-38643372-A-G
gnomAD v3:
15-38351171-A-G
gnomAD v4:
15-38351171-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351171A>G , CM000677.2:g.38351171A>G | GRCh38 |
| NC_000015.9:g.38643372A>G , CM000677.1:g.38643372A>G | GRCh37 |
| NC_000015.8:g.36430664A>G | NCBI36 |
| NG_008980.1:g.103321A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.842A>G MANE Select | ENSP00000299084.4:p.Gln281Arg | |
| ENST00000299084.8:c.842A>G | ENSP00000299084.4:p.Gln281Arg | |
| NM_152594.2:c.842A>G | NP_689807.1:p.Gln281Arg | |
| XM_005254202.2:c.878A>G | XP_005254259.1:p.Gln293Arg | |
| XM_005254203.3:c.620A>G | XP_005254260.1:p.Gln207Arg | |
| XM_011521288.1:c.779A>G | XP_011519590.1:p.Gln260Arg | |
| XM_011521289.1:c.779A>G | XP_011519591.1:p.Gln260Arg | |
| XM_011521290.1:c.779A>G | XP_011519592.1:p.Gln260Arg | |
| XM_005254202.3:c.878A>G | XP_005254259.1:p.Gln293Arg | |
| XM_011521289.3:c.779A>G | XP_011519591.1:p.Gln260Arg | |
| NM_152594.3:c.842A>G MANE Select | NP_689807.1:p.Gln281Arg |