Linked Data
dbSNP Id:
rs764105172
ExAC:
17:12896245 G / A
gnomAD v2:
17-12896245-G-A
gnomAD v3:
17-12992928-G-A
gnomAD v4:
17-12992928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992928G>A , CM000679.2:g.12992928G>A | GRCh38 |
| NC_000017.10:g.12896245G>A , CM000679.1:g.12896245G>A | GRCh37 |
| NC_000017.9:g.12836970G>A | NCBI36 |
| NG_015808.1:g.30137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2371C>T MANE Select | ENSP00000337445.4:p.Arg791Trp | |
| ENST00000338034.8:c.2371C>T | ENSP00000337445.4:p.Arg791Trp | |
| ENST00000395962.6:c.2314C>T | ENSP00000379291.1:p.Arg772Trp | |
| ENST00000426905.7:c.2251C>T | ENSP00000405223.3:p.Arg751Trp | |
| ENST00000465825.5:n.2258C>T | ||
| ENST00000480891.5:n.2200C>T | ||
| ENST00000484122.5:n.3201C>T | ||
| ENST00000487229.6:n.1917C>T | ||
| ENST00000584650.5:c.1770C>T | ||
| NM_001165962.1:c.2251C>T | NP_001159434.1:p.Arg751Trp | |
| NM_018127.6:c.2371C>T | NP_060597.4:p.Arg791Trp | |
| NM_173717.1:c.2368C>T | NP_776065.1:p.Arg790Trp | |
| XM_024450850.1:c.2530C>T | XP_024306618.1:p.Arg844Trp | |
| XM_024450851.1:c.2452C>T | XP_024306619.1:p.Arg818Trp | |
| XM_024450852.1:c.2449C>T | XP_024306620.1:p.Arg817Trp | |
| XM_024450853.1:c.2446C>T | XP_024306621.1:p.Arg816Trp | |
| XM_024450854.1:c.2410C>T | XP_024306622.1:p.Arg804Trp | |
| XM_024450855.1:c.2329C>T | XP_024306623.1:p.Arg777Trp | |
| XM_024450856.1:c.2248C>T | XP_024306624.1:p.Arg750Trp | |
| XM_024450857.1:c.2248C>T | XP_024306625.1:p.Arg750Trp | |
| XM_024450858.1:c.2167C>T | XP_024306626.1:p.Arg723Trp | |
| XM_024450859.1:c.2164C>T | XP_024306627.1:p.Arg722Trp | |
| XM_024450860.1:c.2089C>T | XP_024306628.1:p.Arg697Trp | |
| XM_024450861.1:c.2089C>T | XP_024306629.1:p.Arg697Trp | |
| XM_024450862.1:c.2086C>T | XP_024306630.1:p.Arg696Trp | |
| NM_018127.7:c.2371C>T MANE Select | NP_060597.4:p.Arg791Trp | |
| NM_001165962.2:c.2251C>T | NP_001159434.1:p.Arg751Trp | |
| NM_173717.2:c.2368C>T | NP_776065.1:p.Arg790Trp |