Linked Data
ClinVar Variation Id:
24573
dbSNP Id:
rs78972735
ExAC:
X:107865996 G / T
gnomAD v2:
X-107865996-G-T
gnomAD v3:
X-108622766-G-T
gnomAD v4:
X-108622766-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108622766G>T , CM000685.2:g.108622766G>T | GRCh38 |
| NC_000023.10:g.107865996G>T , CM000685.1:g.107865996G>T | GRCh37 |
| NC_000023.9:g.107752652G>T | NCBI36 |
| NG_011977.1:g.187843G>T | |
| NG_011977.2:g.187843G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.2858G>T MANE Select | ENSP00000331902.7:p.Gly953Val | |
| ENST00000361603.7:c.2858G>T | ENSP00000354505.2:p.Gly953Val | |
| ENST00000328300.10:c.2858G>T | ENSP00000331902.6:p.Gly953Val | |
| ENST00000361603.6:c.2858G>T | ENSP00000354505.2:p.Gly953Val | |
| ENST00000483338.1:n.2314G>T | ||
| ENST00000505728.1:c.91G>T | ||
| NM_000495.4:c.2858G>T | NP_000486.1:p.Gly953Val | |
| NM_033380.2:c.2858G>T | NP_203699.1:p.Gly953Val | |
| XM_005262070.2:c.2858G>T | XP_005262127.1:p.Gly953Val | |
| XM_005262072.3:c.2858G>T | XP_005262129.1:p.Gly953Val | |
| XM_006724616.2:c.2858G>T | XP_006724679.1:p.Gly953Val | |
| XM_011530849.1:c.2534G>T | XP_011529151.1:p.Gly845Val | |
| XM_011530850.1:c.2858G>T | XP_011529152.1:p.Gly953Val | |
| XM_011530851.1:c.431G>T | XP_011529153.1:p.Gly144Val | |
| XM_011530849.2:c.2873G>T | XP_011529151.2:p.Gly958Val | |
| XM_017029259.2:c.2873G>T | XP_016884748.1:p.Gly958Val | |
| XM_017029260.1:c.2873G>T | XP_016884749.1:p.Gly958Val | |
| XM_017029261.1:c.2873G>T | XP_016884750.1:p.Gly958Val | |
| XM_017029262.2:c.2873G>T | XP_016884751.1:p.Gly958Val | |
| XM_017029263.2:c.1193G>T | XP_016884752.1:p.Gly398Val | |
| NM_000495.5:c.2858G>T | NP_000486.1:p.Gly953Val | |
| NM_033380.3:c.2858G>T MANE Select | NP_203699.1:p.Gly953Val |