Linked Data
dbSNP Id:
rs771095355
ExAC:
5:33944893 G / A
gnomAD v2:
5-33944893-G-A
gnomAD v4:
5-33944788-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944788G>A , CM000667.2:g.33944788G>A | GRCh38 |
| NC_000005.9:g.33944893G>A , CM000667.1:g.33944893G>A | GRCh37 |
| NC_000005.8:g.33980650G>A | NCBI36 |
| NG_011691.2:g.44888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1453C>T MANE Select | ENSP00000296589.4:p.Leu485= | |
| ENST00000296589.8:c.1453C>T | ENSP00000296589.4:p.Leu485= | |
| NM_016180.4:c.1453C>T | NP_057264.3:p.Leu485= | |
| XM_011514051.1:c.1051C>T | XP_011512353.1:p.Leu351= | |
| NM_016180.5:c.1453C>T MANE Select | NP_057264.4:p.Leu485= |