Linked Data
ClinVar Variation Id:
2733282
ClinVar RCV Id:
RCV003562063
dbSNP Id:
rs369725471
ExAC:
X:107930701 C / T
gnomAD v2:
X-107930701-C-T
gnomAD v3:
X-108687471-C-T
gnomAD v4:
X-108687471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108687471C>T , CM000685.2:g.108687471C>T | GRCh38 |
| NC_000023.10:g.107930701C>T , CM000685.1:g.107930701C>T | GRCh37 |
| NC_000023.9:g.107817357C>T | NCBI36 |
| NG_011977.1:g.252548C>T | |
| NG_011977.2:g.252548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4316-11C>T MANE Select | ENSP00000331902.7:n.4316-11C>T | |
| ENST00000361603.7:c.4298-11C>T | ENSP00000354505.2:n.4298-11C>T | |
| ENST00000510690.2:n.810-11C>T | ||
| ENST00000328300.10:c.4316-11C>T | ENSP00000331902.6:n.4316-11C>T | |
| ENST00000361603.6:c.4298-11C>T | ENSP00000354505.2:n.4298-11C>T | |
| ENST00000489230.1:n.719-11C>T | ||
| ENST00000515658.1:c.112-11C>T | ||
| NM_000495.4:c.4298-11C>T | NP_000486.1:n.4298-11C>T | |
| NM_033380.2:c.4316-11C>T | NP_203699.1:n.4316-11C>T | |
| XM_005262070.2:c.4307-11C>T | XP_005262127.1:n.4307-11C>T | |
| XM_006724616.2:c.4316-11C>T | XP_006724679.1:n.4316-11C>T | |
| XM_011530849.1:c.3992-11C>T | XP_011529151.1:n.3992-11C>T | |
| XM_011530851.1:c.1889-11C>T | XP_011529153.1:n.1889-11C>T | |
| XM_011530849.2:c.4331-11C>T | XP_011529151.2:n.4331-11C>T | |
| XM_017029259.2:c.4322-11C>T | XP_016884748.1:n.4322-11C>T | |
| XM_017029260.1:c.4313-11C>T | XP_016884749.1:n.4313-11C>T | |
| XM_017029263.2:c.2651-11C>T | XP_016884752.1:n.2651-11C>T | |
| NM_000495.5:c.4298-11C>T | NP_000486.1:n.4298-11C>T | |
| NM_033380.3:c.4316-11C>T MANE Select | NP_203699.1:n.4316-11C>T |