Linked Data
dbSNP Id:
rs551727412
ExAC:
15:73622091 C / T
gnomAD v2:
15-73622091-C-T
gnomAD v3:
15-73329750-C-T
gnomAD v4:
15-73329750-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329750C>T , CM000677.2:g.73329750C>T | GRCh38 |
| NC_000015.9:g.73622091C>T , CM000677.1:g.73622091C>T | GRCh37 |
| NC_000015.8:g.71409144C>T | NCBI36 |
| NG_009063.1:g.44515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1413G>A MANE Select | ENSP00000261917.3:p.Lys471= | |
| ENST00000261917.3:c.1413G>A | ENSP00000261917.3:p.Lys471= | |
| NM_005477.2:c.1413G>A | NP_005468.1:p.Lys471= | |
| XM_011521148.1:c.195G>A | XP_011519450.1:p.Lys65= | |
| XM_011521148.2:c.195G>A | XP_011519450.1:p.Lys65= | |
| NM_005477.3:c.1413G>A MANE Select | NP_005468.1:p.Lys471= |