Linked Data
dbSNP Id:
rs748184190
gnomAD v2:
5-54527463-C-A
gnomAD v3:
5-55231635-C-A
gnomAD v4:
5-55231635-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231635C>A , CM000667.2:g.55231635C>A | GRCh38 |
| NC_000005.9:g.54527463C>A , CM000667.1:g.54527463C>A | GRCh37 |
| NC_000005.8:g.54563220C>A | NCBI36 |
| NG_034201.1:g.7083G>T | |
| NG_051620.1:g.681G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.793G>T MANE Select | ENSP00000282572.4:p.Val265Leu | |
| ENST00000282572.4:c.793G>T | ENSP00000282572.4:p.Val265Leu | |
| ENST00000501463.2:c.*773G>T | ENSP00000422485.1:n.*773G>T | |
| NM_021147.4:c.793G>T | NP_066970.3:p.Val265Leu | |
| NR_125346.1:n.1363G>T | ||
| NR_125347.1:n.992G>T | ||
| NR_125348.1:n.857G>T | ||
| NM_021147.5:c.793G>T MANE Select | NP_066970.3:p.Val265Leu | |
| NR_125346.2:n.1254G>T | ||
| NR_125347.2:n.883G>T |