Linked Data
dbSNP Id:
rs781469896
ExAC:
17:12896256 A / T
gnomAD v2:
17-12896256-A-T
gnomAD v4:
17-12992939-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992939A>T , CM000679.2:g.12992939A>T | GRCh38 |
| NC_000017.10:g.12896256A>T , CM000679.1:g.12896256A>T | GRCh37 |
| NC_000017.9:g.12836981A>T | NCBI36 |
| NG_015808.1:g.30126T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2360T>A MANE Select | ENSP00000337445.4:p.Leu787Gln | |
| ENST00000338034.8:c.2360T>A | ENSP00000337445.4:p.Leu787Gln | |
| ENST00000395962.6:c.2303T>A | ENSP00000379291.1:p.Leu768Gln | |
| ENST00000426905.7:c.2240T>A | ENSP00000405223.3:p.Leu747Gln | |
| ENST00000465825.5:n.2247T>A | ||
| ENST00000480891.5:n.2189T>A | ||
| ENST00000484122.5:n.3190T>A | ||
| ENST00000487229.6:n.1906T>A | ||
| ENST00000584650.5:c.1759T>A | ||
| NM_001165962.1:c.2240T>A | NP_001159434.1:p.Leu747Gln | |
| NM_018127.6:c.2360T>A | NP_060597.4:p.Leu787Gln | |
| NM_173717.1:c.2357T>A | NP_776065.1:p.Leu786Gln | |
| XM_024450850.1:c.2519T>A | XP_024306618.1:p.Leu840Gln | |
| XM_024450851.1:c.2441T>A | XP_024306619.1:p.Leu814Gln | |
| XM_024450852.1:c.2438T>A | XP_024306620.1:p.Leu813Gln | |
| XM_024450853.1:c.2435T>A | XP_024306621.1:p.Leu812Gln | |
| XM_024450854.1:c.2399T>A | XP_024306622.1:p.Leu800Gln | |
| XM_024450855.1:c.2318T>A | XP_024306623.1:p.Leu773Gln | |
| XM_024450856.1:c.2237T>A | XP_024306624.1:p.Leu746Gln | |
| XM_024450857.1:c.2237T>A | XP_024306625.1:p.Leu746Gln | |
| XM_024450858.1:c.2156T>A | XP_024306626.1:p.Leu719Gln | |
| XM_024450859.1:c.2153T>A | XP_024306627.1:p.Leu718Gln | |
| XM_024450860.1:c.2078T>A | XP_024306628.1:p.Leu693Gln | |
| XM_024450861.1:c.2078T>A | XP_024306629.1:p.Leu693Gln | |
| XM_024450862.1:c.2075T>A | XP_024306630.1:p.Leu692Gln | |
| NM_018127.7:c.2360T>A MANE Select | NP_060597.4:p.Leu787Gln | |
| NM_001165962.2:c.2240T>A | NP_001159434.1:p.Leu747Gln | |
| NM_173717.2:c.2357T>A | NP_776065.1:p.Leu786Gln |