Linked Data
ClinVar Variation Id:
1804103
ClinVar RCV Id:
RCV002468841
dbSNP Id:
rs104886434
gnomAD v4:
X-108575973-G-A
PubMed:
PMID:11462238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108575973G>A , CM000685.2:g.108575973G>A | GRCh38 |
| NC_000023.10:g.107819203G>A , CM000685.1:g.107819203G>A | GRCh37 |
| NC_000023.9:g.107705859G>A | NCBI36 |
| NG_011977.1:g.141050G>A | |
| NG_011977.2:g.141050G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.609+1G>A MANE Select | ENSP00000331902.7:n.609+1G>A | |
| ENST00000361603.7:c.609+1G>A | ENSP00000354505.2:n.609+1G>A | |
| ENST00000328300.10:c.609+1G>A | ENSP00000331902.6:n.609+1G>A | |
| ENST00000361603.6:c.609+1G>A | ENSP00000354505.2:n.609+1G>A | |
| NM_000495.4:c.609+1G>A | NP_000486.1:n.609+1G>A | |
| NM_033380.2:c.609+1G>A | NP_203699.1:n.609+1G>A | |
| XM_005262070.2:c.609+1G>A | XP_005262127.1:n.609+1G>A | |
| XM_005262072.3:c.609+1G>A | XP_005262129.1:n.609+1G>A | |
| XM_006724616.2:c.609+1G>A | XP_006724679.1:n.609+1G>A | |
| XM_011530849.1:c.285+1G>A | XP_011529151.1:n.285+1G>A | |
| XM_011530850.1:c.609+1G>A | XP_011529152.1:n.609+1G>A | |
| XM_011530849.2:c.624+1G>A | XP_011529151.2:n.624+1G>A | |
| XM_017029259.2:c.624+1G>A | XP_016884748.1:n.624+1G>A | |
| XM_017029260.1:c.624+1G>A | XP_016884749.1:n.624+1G>A | |
| XM_017029261.1:c.624+1G>A | XP_016884750.1:n.624+1G>A | |
| XM_017029262.2:c.624+1G>A | XP_016884751.1:n.624+1G>A | |
| NM_000495.5:c.609+1G>A | NP_000486.1:n.609+1G>A | |
| NM_033380.3:c.609+1G>A MANE Select | NP_203699.1:n.609+1G>A |