Linked Data
ClinVar Variation Id:
421202
ClinVar RCV Id:
RCV000486741
dbSNP Id:
rs1064794973
gnomAD v4:
X-72627051-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72627051T>A , CM000685.2:g.72627051T>A | GRCh38 |
| NC_000023.10:g.71846901T>A , CM000685.1:g.71846901T>A | GRCh37 |
| NC_000023.9:g.71763626T>A | NCBI36 |
| NG_016599.1:g.92129A>T | |
| NG_016599.2:g.92131A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373542.9:c.1715-2A>T MANE Select | ENSP00000362643.4:n.1715-2A>T | |
| ENST00000339490.7:c.1715-2A>T | ENSP00000342469.3:n.1715-2A>T | |
| ENST00000373539.3:c.1715-2A>T | ENSP00000362640.3:n.1715-2A>T | |
| ENST00000373542.8:c.1715-2A>T | ENSP00000362643.4:n.1715-2A>T | |
| ENST00000373545.7:c.1715-2A>T | ENSP00000362646.3:n.1715-2A>T | |
| ENST00000541944.5:c.1715-2A>T | ENSP00000441251.1:n.1715-2A>T | |
| NM_001122670.1:c.1715-2A>T | NP_001116142.1:n.1715-2A>T | |
| NM_001172436.1:c.1715-2A>T | NP_001165907.1:n.1715-2A>T | |
| NM_002637.3:c.1715-2A>T | NP_002628.2:n.1715-2A>T | |
| XM_006724661.2:c.1715-2A>T | XP_006724724.1:n.1715-2A>T | |
| XR_001755696.1:n.1858-2A>T | ||
| NM_002637.4:c.1715-2A>T MANE Select | NP_002628.2:n.1715-2A>T | |
| NM_001122670.2:c.1715-2A>T | NP_001116142.1:n.1715-2A>T | |
| NM_001172436.2:c.1715-2A>T | NP_001165907.1:n.1715-2A>T |