Linked Data
dbSNP Id:
rs1370282368
gnomAD v2:
X-119064185-C-T
gnomAD v3:
X-119930222-C-T
gnomAD v4:
X-119930222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930222C>T , CM000685.2:g.119930222C>T | GRCh38 |
| NC_000023.10:g.119064185C>T , CM000685.1:g.119064185C>T | GRCh37 |
| NC_000023.9:g.118948213C>T | NCBI36 |
| NG_021260.1:g.18551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.924-57G>A MANE Select | ENSP00000360464.3:n.924-57G>A | |
| ENST00000652253.1:c.920-57G>A | ||
| ENST00000371410.4:c.924-57G>A | ENSP00000360464.3:n.924-57G>A | |
| ENST00000477789.5:n.1852-57G>A | ||
| ENST00000482407.1:n.723-57G>A | ||
| NM_024528.3:c.924-57G>A | NP_078804.2:n.924-57G>A | |
| XM_017029842.1:c.627-57G>A | XP_016885331.1:n.627-57G>A | |
| NM_024528.4:c.924-57G>A MANE Select | NP_078804.2:n.924-57G>A |