Linked Data
dbSNP Id:
rs371543722
gnomAD v4:
17-12993004-G-A
MyVariant Identifiers:
chr17:g.12896321G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12993004G>A , CM000679.2:g.12993004G>A | GRCh38 |
| NC_000017.10:g.12896321G>A , CM000679.1:g.12896321G>A | GRCh37 |
| NC_000017.9:g.12837046G>A | NCBI36 |
| NG_015808.1:g.30061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2295C>T MANE Select | ENSP00000337445.4:p.Pro765= | |
| ENST00000338034.8:c.2295C>T | ENSP00000337445.4:p.Pro765= | |
| ENST00000395962.6:c.2238C>T | ENSP00000379291.1:p.Pro746= | |
| ENST00000426905.7:c.2175C>T | ENSP00000405223.3:p.Pro725= | |
| ENST00000465825.5:n.2182C>T | ||
| ENST00000480891.5:n.2124C>T | ||
| ENST00000484122.5:n.3125C>T | ||
| ENST00000487229.6:n.1841C>T | ||
| ENST00000584650.5:c.1694C>T | ||
| NM_001165962.1:c.2175C>T | NP_001159434.1:p.Pro725= | |
| NM_018127.6:c.2295C>T | NP_060597.4:p.Pro765= | |
| NM_173717.1:c.2292C>T | NP_776065.1:p.Pro764= | |
| XM_024450850.1:c.2454C>T | XP_024306618.1:p.Pro818= | |
| XM_024450851.1:c.2376C>T | XP_024306619.1:p.Pro792= | |
| XM_024450852.1:c.2373C>T | XP_024306620.1:p.Pro791= | |
| XM_024450853.1:c.2370C>T | XP_024306621.1:p.Pro790= | |
| XM_024450854.1:c.2334C>T | XP_024306622.1:p.Pro778= | |
| XM_024450855.1:c.2253C>T | XP_024306623.1:p.Pro751= | |
| XM_024450856.1:c.2172C>T | XP_024306624.1:p.Pro724= | |
| XM_024450857.1:c.2172C>T | XP_024306625.1:p.Pro724= | |
| XM_024450858.1:c.2091C>T | XP_024306626.1:p.Pro697= | |
| XM_024450859.1:c.2088C>T | XP_024306627.1:p.Pro696= | |
| XM_024450860.1:c.2013C>T | XP_024306628.1:p.Pro671= | |
| XM_024450861.1:c.2013C>T | XP_024306629.1:p.Pro671= | |
| XM_024450862.1:c.2010C>T | XP_024306630.1:p.Pro670= | |
| NM_018127.7:c.2295C>T MANE Select | NP_060597.4:p.Pro765= | |
| NM_001165962.2:c.2175C>T | NP_001159434.1:p.Pro725= | |
| NM_173717.2:c.2292C>T | NP_776065.1:p.Pro764= |