Linked Data
ClinVar Variation Id:
1144219
ClinVar RCV Id:
RCV001482623
dbSNP Id:
rs768411547
ExAC:
X:107840759 G / A
gnomAD v2:
X-107840759-G-A
gnomAD v3:
X-108597529-G-A
gnomAD v4:
X-108597529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108597529G>A , CM000685.2:g.108597529G>A | GRCh38 |
| NC_000023.10:g.107840759G>A , CM000685.1:g.107840759G>A | GRCh37 |
| NC_000023.9:g.107727415G>A | NCBI36 |
| NG_011977.1:g.162606G>A | |
| NG_011977.2:g.162606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.1740G>A MANE Select | ENSP00000331902.7:p.Gln580= | |
| ENST00000361603.7:c.1740G>A | ENSP00000354505.2:p.Gln580= | |
| ENST00000328300.10:c.1740G>A | ENSP00000331902.6:p.Gln580= | |
| ENST00000361603.6:c.1740G>A | ENSP00000354505.2:p.Gln580= | |
| ENST00000483338.1:n.1196G>A | ||
| NM_000495.4:c.1740G>A | NP_000486.1:p.Gln580= | |
| NM_033380.2:c.1740G>A | NP_203699.1:p.Gln580= | |
| XM_005262070.2:c.1740G>A | XP_005262127.1:p.Gln580= | |
| XM_005262072.3:c.1740G>A | XP_005262129.1:p.Gln580= | |
| XM_006724616.2:c.1740G>A | XP_006724679.1:p.Gln580= | |
| XM_011530849.1:c.1416G>A | XP_011529151.1:p.Gln472= | |
| XM_011530850.1:c.1740G>A | XP_011529152.1:p.Gln580= | |
| XM_011530849.2:c.1755G>A | XP_011529151.2:p.Gln585= | |
| XM_017029259.2:c.1755G>A | XP_016884748.1:p.Gln585= | |
| XM_017029260.1:c.1755G>A | XP_016884749.1:p.Gln585= | |
| XM_017029261.1:c.1755G>A | XP_016884750.1:p.Gln585= | |
| XM_017029262.2:c.1755G>A | XP_016884751.1:p.Gln585= | |
| XM_017029263.2:c.75G>A | XP_016884752.1:p.Gln25= | |
| NM_000495.5:c.1740G>A | NP_000486.1:p.Gln580= | |
| NM_033380.3:c.1740G>A MANE Select | NP_203699.1:p.Gln580= |