Linked Data
ClinVar Variation Id:
913476
ClinVar RCV Id:
RCV001167107
dbSNP Id:
rs1932808020
gnomAD v4:
X-29917464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917464G>A , CM000685.2:g.29917464G>A | GRCh38 |
| NC_000023.10:g.29935581G>A , CM000685.1:g.29935581G>A | GRCh37 |
| NC_000023.9:g.29845502G>A | NCBI36 |
| NG_008292.1:g.1334901G>A | |
| NG_008292.2:g.1334901G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.779G>A MANE Select | ENSP00000368278.1:p.Gly260Asp | |
| ENST00000302196.5:c.2G>A | ENSP00000305200.5:p.Gly1Asp | |
| ENST00000378993.5:c.779G>A | ENSP00000368278.1:p.Gly260Asp | |
| NM_014271.3:c.779G>A | NP_055086.1:p.Gly260Asp | |
| XM_005274441.1:c.779G>A | XP_005274498.1:p.Gly260Asp | |
| XM_011545445.1:c.779G>A | XP_011543747.1:p.Gly260Asp | |
| XM_017029240.1:c.779G>A | XP_016884729.1:p.Gly260Asp | |
| XM_017029241.1:c.401G>A | XP_016884730.1:p.Gly134Asp | |
| NM_014271.4:c.779G>A MANE Select | NP_055086.1:p.Gly260Asp |