Linked Data
dbSNP Id:
rs1205046215
gnomAD v2:
X-107869741-A-G
gnomAD v3:
X-108626511-A-G
gnomAD v4:
X-108626511-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108626511A>G , CM000685.2:g.108626511A>G | GRCh38 |
| NC_000023.10:g.107869741A>G , CM000685.1:g.107869741A>G | GRCh37 |
| NC_000023.9:g.107756397A>G | NCBI36 |
| NG_011977.1:g.191588A>G | |
| NG_011977.2:g.191588A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.3246+162A>G MANE Select | ENSP00000331902.7:n.3246+162A>G | |
| ENST00000361603.7:c.3246+162A>G | ENSP00000354505.2:n.3246+162A>G | |
| ENST00000328300.10:c.3246+162A>G | ENSP00000331902.6:n.3246+162A>G | |
| ENST00000361603.6:c.3246+162A>G | ENSP00000354505.2:n.3246+162A>G | |
| ENST00000483338.1:n.2864A>G | ||
| ENST00000505728.1:c.493A>G | ||
| NM_000495.4:c.3246+162A>G | NP_000486.1:n.3246+162A>G | |
| NM_033380.2:c.3246+162A>G | NP_203699.1:n.3246+162A>G | |
| XM_005262070.2:c.3246+162A>G | XP_005262127.1:n.3246+162A>G | |
| XM_005262072.3:c.3260A>G | XP_005262129.1:p.Tyr1087Cys | |
| XM_006724616.2:c.3246+162A>G | XP_006724679.1:n.3246+162A>G | |
| XM_011530849.1:c.2922+162A>G | XP_011529151.1:n.2922+162A>G | |
| XM_011530850.1:c.3246+162A>G | XP_011529152.1:n.3246+162A>G | |
| XM_011530851.1:c.819+162A>G | XP_011529153.1:n.819+162A>G | |
| XM_011530849.2:c.3261+162A>G | XP_011529151.2:n.3261+162A>G | |
| XM_017029259.2:c.3261+162A>G | XP_016884748.1:n.3261+162A>G | |
| XM_017029260.1:c.3261+162A>G | XP_016884749.1:n.3261+162A>G | |
| XM_017029261.1:c.3261+162A>G | XP_016884750.1:n.3261+162A>G | |
| XM_017029262.2:c.3261+162A>G | XP_016884751.1:n.3261+162A>G | |
| XM_017029263.2:c.1581+162A>G | XP_016884752.1:n.1581+162A>G | |
| NM_000495.5:c.3246+162A>G | NP_000486.1:n.3246+162A>G | |
| NM_033380.3:c.3246+162A>G MANE Select | NP_203699.1:n.3246+162A>G |