Linked Data
dbSNP Id:
rs2040268124
gnomAD v4:
17-12993040-G-A
MyVariant Identifiers:
chr17:g.12896357G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12993040G>A , CM000679.2:g.12993040G>A | GRCh38 |
| NC_000017.10:g.12896357G>A , CM000679.1:g.12896357G>A | GRCh37 |
| NC_000017.9:g.12837082G>A | NCBI36 |
| NG_015808.1:g.30025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2259C>T MANE Select | ENSP00000337445.4:p.Cys753= | |
| ENST00000338034.8:c.2259C>T | ENSP00000337445.4:p.Cys753= | |
| ENST00000395962.6:c.2202C>T | ENSP00000379291.1:p.Cys734= | |
| ENST00000426905.7:c.2139C>T | ENSP00000405223.3:p.Cys713= | |
| ENST00000465825.5:n.2146C>T | ||
| ENST00000480891.5:n.2088C>T | ||
| ENST00000484122.5:n.3089C>T | ||
| ENST00000487229.6:n.1805C>T | ||
| ENST00000584650.5:c.1658C>T | ||
| NM_001165962.1:c.2139C>T | NP_001159434.1:p.Cys713= | |
| NM_018127.6:c.2259C>T | NP_060597.4:p.Cys753= | |
| NM_173717.1:c.2256C>T | NP_776065.1:p.Cys752= | |
| XM_024450850.1:c.2418C>T | XP_024306618.1:p.Cys806= | |
| XM_024450851.1:c.2340C>T | XP_024306619.1:p.Cys780= | |
| XM_024450852.1:c.2337C>T | XP_024306620.1:p.Cys779= | |
| XM_024450853.1:c.2334C>T | XP_024306621.1:p.Cys778= | |
| XM_024450854.1:c.2298C>T | XP_024306622.1:p.Cys766= | |
| XM_024450855.1:c.2217C>T | XP_024306623.1:p.Cys739= | |
| XM_024450856.1:c.2136C>T | XP_024306624.1:p.Cys712= | |
| XM_024450857.1:c.2136C>T | XP_024306625.1:p.Cys712= | |
| XM_024450858.1:c.2055C>T | XP_024306626.1:p.Cys685= | |
| XM_024450859.1:c.2052C>T | XP_024306627.1:p.Cys684= | |
| XM_024450860.1:c.1977C>T | XP_024306628.1:p.Cys659= | |
| XM_024450861.1:c.1977C>T | XP_024306629.1:p.Cys659= | |
| XM_024450862.1:c.1974C>T | XP_024306630.1:p.Cys658= | |
| NM_018127.7:c.2259C>T MANE Select | NP_060597.4:p.Cys753= | |
| NM_001165962.2:c.2139C>T | NP_001159434.1:p.Cys713= | |
| NM_173717.2:c.2256C>T | NP_776065.1:p.Cys752= |