Linked Data
dbSNP Id:
rs1225483766
gnomAD v2:
17-12896178-G-A
gnomAD v3:
17-12992861-G-A
gnomAD v4:
17-12992861-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992861G>A , CM000679.2:g.12992861G>A | GRCh38 |
| NC_000017.10:g.12896178G>A , CM000679.1:g.12896178G>A | GRCh37 |
| NC_000017.9:g.12836903G>A | NCBI36 |
| NG_015808.1:g.30204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2438C>T MANE Select | ENSP00000337445.4:p.Ala813Val | |
| ENST00000338034.8:c.2438C>T | ENSP00000337445.4:p.Ala813Val | |
| ENST00000395962.6:c.2381C>T | ENSP00000379291.1:p.Ala794Val | |
| ENST00000426905.7:c.2318C>T | ENSP00000405223.3:p.Ala773Val | |
| ENST00000465825.5:n.2325C>T | ||
| ENST00000480891.5:n.2267C>T | ||
| ENST00000484122.5:n.3268C>T | ||
| ENST00000487229.6:n.1984C>T | ||
| ENST00000584650.5:c.1837C>T | ||
| NM_001165962.1:c.2318C>T | NP_001159434.1:p.Ala773Val | |
| NM_018127.6:c.2438C>T | NP_060597.4:p.Ala813Val | |
| NM_173717.1:c.2435C>T | NP_776065.1:p.Ala812Val | |
| XM_024450850.1:c.2597C>T | XP_024306618.1:p.Ala866Val | |
| XM_024450851.1:c.2519C>T | XP_024306619.1:p.Ala840Val | |
| XM_024450852.1:c.2516C>T | XP_024306620.1:p.Ala839Val | |
| XM_024450853.1:c.2513C>T | XP_024306621.1:p.Ala838Val | |
| XM_024450854.1:c.2477C>T | XP_024306622.1:p.Ala826Val | |
| XM_024450855.1:c.2396C>T | XP_024306623.1:p.Ala799Val | |
| XM_024450856.1:c.2315C>T | XP_024306624.1:p.Ala772Val | |
| XM_024450857.1:c.2315C>T | XP_024306625.1:p.Ala772Val | |
| XM_024450858.1:c.2234C>T | XP_024306626.1:p.Ala745Val | |
| XM_024450859.1:c.2231C>T | XP_024306627.1:p.Ala744Val | |
| XM_024450860.1:c.2156C>T | XP_024306628.1:p.Ala719Val | |
| XM_024450861.1:c.2156C>T | XP_024306629.1:p.Ala719Val | |
| XM_024450862.1:c.2153C>T | XP_024306630.1:p.Ala718Val | |
| NM_018127.7:c.2438C>T MANE Select | NP_060597.4:p.Ala813Val | |
| NM_001165962.2:c.2318C>T | NP_001159434.1:p.Ala773Val | |
| NM_173717.2:c.2435C>T | NP_776065.1:p.Ala812Val |