Linked Data
ClinVar Variation Id:
24567
dbSNP Id:
rs104886195
gnomAD v4:
X-108622712-G-A
PubMed:
PMID:15954103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108622712G>A , CM000685.2:g.108622712G>A | GRCh38 |
| NC_000023.10:g.107865942G>A , CM000685.1:g.107865942G>A | GRCh37 |
| NC_000023.9:g.107752598G>A | NCBI36 |
| NG_011977.1:g.187789G>A | |
| NG_011977.2:g.187789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.2804G>A MANE Select | ENSP00000331902.7:p.Gly935Asp | |
| ENST00000361603.7:c.2804G>A | ENSP00000354505.2:p.Gly935Asp | |
| ENST00000328300.10:c.2804G>A | ENSP00000331902.6:p.Gly935Asp | |
| ENST00000361603.6:c.2804G>A | ENSP00000354505.2:p.Gly935Asp | |
| ENST00000483338.1:n.2260G>A | ||
| ENST00000505728.1:c.37G>A | ||
| NM_000495.4:c.2804G>A | NP_000486.1:p.Gly935Asp | |
| NM_033380.2:c.2804G>A | NP_203699.1:p.Gly935Asp | |
| XM_005262070.2:c.2804G>A | XP_005262127.1:p.Gly935Asp | |
| XM_005262072.3:c.2804G>A | XP_005262129.1:p.Gly935Asp | |
| XM_006724616.2:c.2804G>A | XP_006724679.1:p.Gly935Asp | |
| XM_011530849.1:c.2480G>A | XP_011529151.1:p.Gly827Asp | |
| XM_011530850.1:c.2804G>A | XP_011529152.1:p.Gly935Asp | |
| XM_011530851.1:c.377G>A | XP_011529153.1:p.Gly126Asp | |
| XM_011530849.2:c.2819G>A | XP_011529151.2:p.Gly940Asp | |
| XM_017029259.2:c.2819G>A | XP_016884748.1:p.Gly940Asp | |
| XM_017029260.1:c.2819G>A | XP_016884749.1:p.Gly940Asp | |
| XM_017029261.1:c.2819G>A | XP_016884750.1:p.Gly940Asp | |
| XM_017029262.2:c.2819G>A | XP_016884751.1:p.Gly940Asp | |
| XM_017029263.2:c.1139G>A | XP_016884752.1:p.Gly380Asp | |
| NM_000495.5:c.2804G>A | NP_000486.1:p.Gly935Asp | |
| NM_033380.3:c.2804G>A MANE Select | NP_203699.1:p.Gly935Asp |