Linked Data
dbSNP Id:
rs759508522
ExAC:
5:54527473 C / A
gnomAD v2:
5-54527473-C-A
gnomAD v3:
5-55231645-C-A
gnomAD v4:
5-55231645-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231645C>A , CM000667.2:g.55231645C>A | GRCh38 |
| NC_000005.9:g.54527473C>A , CM000667.1:g.54527473C>A | GRCh37 |
| NC_000005.8:g.54563230C>A | NCBI36 |
| NG_034201.1:g.7073G>T | |
| NG_051620.1:g.671G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.783G>T MANE Select | ENSP00000282572.4:p.Leu261= | |
| ENST00000282572.4:c.783G>T | ENSP00000282572.4:p.Leu261= | |
| ENST00000501463.2:c.*763G>T | ENSP00000422485.1:n.*763G>T | |
| NM_021147.4:c.783G>T | NP_066970.3:p.Leu261= | |
| NR_125346.1:n.1353G>T | ||
| NR_125347.1:n.982G>T | ||
| NR_125348.1:n.847G>T | ||
| NM_021147.5:c.783G>T MANE Select | NP_066970.3:p.Leu261= | |
| NR_125346.2:n.1244G>T | ||
| NR_125347.2:n.873G>T |