Linked Data
ClinVar Variation Id:
371254
dbSNP Id:
rs982830431
gnomAD v4:
9-130479801-G-A
PubMed:
PMID:25179242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130479801G>A , CM000671.2:g.130479801G>A | GRCh38 |
| NC_000009.11:g.133355188G>A , CM000671.1:g.133355188G>A | GRCh37 |
| NC_000009.10:g.132345009G>A | NCBI36 |
| NG_011542.1:g.40095G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.773+1G>A MANE Select | ENSP00000253004.6:n.773+1G>A | |
| ENST00000352480.9:c.773+1G>A | ENSP00000253004.6:n.773+1G>A | |
| ENST00000372393.7:c.773+1G>A | ENSP00000361469.2:n.773+1G>A | |
| ENST00000372394.5:c.773+1G>A | ENSP00000361471.1:n.773+1G>A | |
| ENST00000467695.5:n.483G>A | ||
| ENST00000470849.4:n.498+1G>A | ||
| ENST00000492400.5:n.282+1G>A | ||
| ENST00000493984.6:n.550+1G>A | ||
| NM_000050.4:c.773+1G>A | NP_000041.2:n.773+1G>A | |
| NM_054012.3:c.773+1G>A | NP_446464.1:n.773+1G>A | |
| XM_005272200.2:c.773+1G>A | XP_005272257.1:n.773+1G>A | |
| XM_011518705.1:c.887+1G>A | XP_011517007.1:n.887+1G>A | |
| XM_005272200.3:c.773+1G>A | XP_005272257.1:n.773+1G>A | |
| XM_011518705.2:c.887+1G>A | XP_011517007.1:n.887+1G>A | |
| XM_017014729.1:c.869+1G>A | XP_016870218.1:n.869+1G>A | |
| NM_054012.4:c.773+1G>A MANE Select | NP_446464.1:n.773+1G>A |