Linked Data
dbSNP Id:
rs765946213
ExAC:
3:135980841 T / G
gnomAD v2:
3-135980841-T-G
gnomAD v4:
3-136261999-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136261999T>G , CM000665.2:g.136261999T>G | GRCh38 |
| NC_000003.11:g.135980841T>G , CM000665.1:g.135980841T>G | GRCh37 |
| NC_000003.10:g.137463531T>G | NCBI36 |
| NG_008939.1:g.16675T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.477T>G MANE Select | ENSP00000251654.4:p.Asn159Lys | |
| ENST00000251654.8:c.477T>G | ENSP00000251654.4:p.Asn159Lys | |
| ENST00000459873.1:c.228T>G | ENSP00000419293.1:p.Asn76Lys | |
| ENST00000462542.5:c.344T>G | ||
| ENST00000462637.5:c.408T>G | ENSP00000420391.1:p.Asn136Lys | |
| ENST00000465176.5:n.439T>G | ||
| ENST00000465423.5:c.564T>G | ENSP00000419263.1:p.Asn188Lys | |
| ENST00000466072.5:c.477T>G | ENSP00000420158.1:p.Asn159Lys | |
| ENST00000468777.5:c.570T>G | ENSP00000419129.1:p.Asn190Lys | |
| ENST00000469217.5:c.537T>G | ENSP00000419027.1:p.Asn179Lys | |
| ENST00000471595.5:c.477T>G | ENSP00000417549.1:p.Asn159Lys | |
| ENST00000473073.1:n.434T>G | ||
| ENST00000474833.5:n.168+11441T>G | ||
| ENST00000475214.5:n.391T>G | ||
| ENST00000478469.5:c.477T>G | ENSP00000420759.1:p.Asn159Lys | |
| ENST00000482086.5:c.129T>G | ENSP00000417253.1:p.Asn43Lys | |
| ENST00000483687.5:c.420T>G | ENSP00000420639.1:p.Asn140Lys | |
| ENST00000484181.5:c.477T>G | ENSP00000417937.1:p.Asn159Lys | |
| ENST00000490504.5:c.372+5376T>G | ENSP00000418307.1:n.372+5376T>G | |
| ENST00000494742.5:c.228T>G | ENSP00000418020.1:p.Asn76Lys | |
| NM_000532.4:c.477T>G | NP_000523.2:p.Asn159Lys | |
| NM_001178014.1:c.537T>G | NP_001171485.1:p.Asn179Lys | |
| XM_011512873.1:c.477T>G | XP_011511175.1:p.Asn159Lys | |
| XM_011512873.2:c.477T>G | XP_011511175.1:p.Asn159Lys | |
| NM_000532.5:c.477T>G MANE Select | NP_000523.2:p.Asn159Lys | |
| NM_001178014.2:c.537T>G | NP_001171485.1:p.Asn179Lys |