Linked Data
ClinVar Variation Id:
425497
dbSNP Id:
rs1064797371
gnomAD v4:
X-49216381-C-T
COSMIC:
COSM488420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216381C>T , CM000685.2:g.49216381C>T | GRCh38 |
| NC_000023.10:g.49072841C>T , CM000685.1:g.49072841C>T | GRCh37 |
| NC_000023.9:g.48959785C>T | NCBI36 |
| NG_009095.2:g.21986G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323022.10:c.3236+1G>A MANE Select | ENSP00000321618.6:n.3236+1G>A | |
| ENST00000323022.9:c.3236+1G>A | ENSP00000321618.5:n.3236+1G>A | |
| ENST00000376251.5:c.3074+1G>A | ENSP00000365427.1:n.3074+1G>A | |
| ENST00000376265.2:c.3269+1G>A | ENSP00000365441.2:n.3269+1G>A | |
| NM_001256789.2:c.3236+1G>A | NP_001243718.1:n.3236+1G>A | |
| NM_001256790.2:c.3074+1G>A | NP_001243719.1:n.3074+1G>A | |
| NM_005183.3:c.3269+1G>A | NP_005174.2:n.3269+1G>A | |
| XM_011543983.1:c.3074+1G>A | XP_011542285.1:n.3074+1G>A | |
| XM_011543983.2:c.3074+1G>A | XP_011542285.1:n.3074+1G>A | |
| XM_017029836.1:c.503+1G>A | XP_016885325.1:n.503+1G>A | |
| NM_001256789.3:c.3236+1G>A MANE Select | NP_001243718.1:n.3236+1G>A | |
| NM_001256790.3:c.3074+1G>A | NP_001243719.1:n.3074+1G>A | |
| NM_005183.4:c.3269+1G>A | NP_005174.2:n.3269+1G>A |