Linked Data
dbSNP Id:
rs920825168
gnomAD v2:
15-72103635-T-G
gnomAD v3:
15-71811295-T-G
gnomAD v4:
15-71811295-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811295T>G , CM000677.2:g.71811295T>G | GRCh38 |
| NC_000015.9:g.72103635T>G , CM000677.1:g.72103635T>G | GRCh37 |
| NC_000015.8:g.69890689T>G | NCBI36 |
| NG_009113.2:g.5741T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.119-188T>G MANE Select | ENSP00000482504.1:n.119-188T>G | |
| ENST00000617575.4:c.119-188T>G | ENSP00000482504.1:n.119-188T>G | |
| ENST00000621098.1:c.119-188T>G | ENSP00000479962.1:n.119-188T>G | |
| ENST00000621736.4:c.-146-188T>G | ENSP00000479254.1:n.-146-188T>G | |
| NM_014249.3:c.119-188T>G | NP_055064.1:n.119-188T>G | |
| NM_016346.3:c.119-188T>G | NP_057430.1:n.119-188T>G | |
| XM_011521146.1:c.-146-188T>G | XP_011519448.1:n.-146-188T>G | |
| NM_014249.4:c.119-188T>G MANE Select | NP_055064.1:n.119-188T>G | |
| NM_016346.4:c.119-188T>G | NP_057430.1:n.119-188T>G |