Linked Data
ClinVar Variation Id:
474565
dbSNP Id:
rs775479429
ExAC:
17:12896291 G / A
gnomAD v2:
17-12896291-G-A
gnomAD v4:
17-12992974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992974G>A , CM000679.2:g.12992974G>A | GRCh38 |
| NC_000017.10:g.12896291G>A , CM000679.1:g.12896291G>A | GRCh37 |
| NC_000017.9:g.12837016G>A | NCBI36 |
| NG_015808.1:g.30091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2325C>T MANE Select | ENSP00000337445.4:p.Ile775= | |
| ENST00000338034.8:c.2325C>T | ENSP00000337445.4:p.Ile775= | |
| ENST00000395962.6:c.2268C>T | ENSP00000379291.1:p.Ile756= | |
| ENST00000426905.7:c.2205C>T | ENSP00000405223.3:p.Ile735= | |
| ENST00000465825.5:n.2212C>T | ||
| ENST00000480891.5:n.2154C>T | ||
| ENST00000484122.5:n.3155C>T | ||
| ENST00000487229.6:n.1871C>T | ||
| ENST00000584650.5:c.1724C>T | ||
| NM_001165962.1:c.2205C>T | NP_001159434.1:p.Ile735= | |
| NM_018127.6:c.2325C>T | NP_060597.4:p.Ile775= | |
| NM_173717.1:c.2322C>T | NP_776065.1:p.Ile774= | |
| XM_024450850.1:c.2484C>T | XP_024306618.1:p.Ile828= | |
| XM_024450851.1:c.2406C>T | XP_024306619.1:p.Ile802= | |
| XM_024450852.1:c.2403C>T | XP_024306620.1:p.Ile801= | |
| XM_024450853.1:c.2400C>T | XP_024306621.1:p.Ile800= | |
| XM_024450854.1:c.2364C>T | XP_024306622.1:p.Ile788= | |
| XM_024450855.1:c.2283C>T | XP_024306623.1:p.Ile761= | |
| XM_024450856.1:c.2202C>T | XP_024306624.1:p.Ile734= | |
| XM_024450857.1:c.2202C>T | XP_024306625.1:p.Ile734= | |
| XM_024450858.1:c.2121C>T | XP_024306626.1:p.Ile707= | |
| XM_024450859.1:c.2118C>T | XP_024306627.1:p.Ile706= | |
| XM_024450860.1:c.2043C>T | XP_024306628.1:p.Ile681= | |
| XM_024450861.1:c.2043C>T | XP_024306629.1:p.Ile681= | |
| XM_024450862.1:c.2040C>T | XP_024306630.1:p.Ile680= | |
| NM_018127.7:c.2325C>T MANE Select | NP_060597.4:p.Ile775= | |
| NM_001165962.2:c.2205C>T | NP_001159434.1:p.Ile735= | |
| NM_173717.2:c.2322C>T | NP_776065.1:p.Ile774= |