Linked Data
ClinVar Variation Id:
402954
dbSNP Id:
rs1798531
ExAC:
16:70954915 G / T
gnomAD v2:
16-70954915-G-T
gnomAD v3:
16-70921012-G-T
gnomAD v4:
16-70921012-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70921012G>T , CM000678.2:g.70921012G>T | GRCh38 |
| NC_000016.9:g.70954915G>T , CM000678.1:g.70954915G>T | GRCh37 |
| NG_033116.1:g.314711C>A | |
| NG_033116.2:g.314711C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393567.7:c.7364C>A MANE Select | ENSP00000377197.2:p.Pro2455Gln | |
| ENST00000309900.11:n.2036C>A | ||
| ENST00000393567.6:c.7364C>A | ENSP00000377197.2:p.Pro2455Gln | |
| NM_001270974.1:c.7364C>A | NP_001257903.1:p.Pro2455Gln | |
| XM_006721206.2:c.7415C>A | XP_006721269.1:p.Pro2472Gln | |
| XM_011523146.1:c.7547C>A | XP_011521448.1:p.Pro2516Gln | |
| XM_011523147.1:c.7517C>A | XP_011521449.1:p.Pro2506Gln | |
| XM_011523148.1:c.7466C>A | XP_011521450.1:p.Pro2489Gln | |
| XM_011523149.1:c.7466C>A | XP_011521451.1:p.Pro2489Gln | |
| XM_011523150.1:c.7466C>A | XP_011521452.1:p.Pro2489Gln | |
| XM_011523151.1:c.7445C>A | XP_011521453.1:p.Pro2482Gln | |
| XM_011523152.1:c.1226C>A | XP_011521454.1:p.Pro409Gln | |
| XM_011523153.1:c.752C>A | XP_011521455.1:p.Pro251Gln | |
| XM_011523154.1:c.344C>A | XP_011521456.1:p.Pro115Gln | |
| XM_011523155.1:c.254C>A | XP_011521457.1:p.Pro85Gln | |
| NM_001270974.2:c.7364C>A MANE Select | NP_001257903.1:p.Pro2455Gln | |
| XM_006721206.3:c.7415C>A | XP_006721269.1:p.Pro2472Gln | |
| XM_011523146.2:c.7547C>A | XP_011521448.1:p.Pro2516Gln | |
| XM_011523151.2:c.7445C>A | XP_011521453.1:p.Pro2482Gln | |
| XM_011523155.2:c.254C>A | XP_011521457.1:p.Pro85Gln | |
| XM_017023346.2:c.7484C>A | XP_016878835.1:p.Pro2495Gln | |
| XM_017023347.1:c.5576C>A | XP_016878836.1:p.Pro1859Gln | |
| XM_017023348.1:c.5576C>A | XP_016878837.1:p.Pro1859Gln |