Linked Data
ClinVar Variation Id:
495801
ClinVar RCV Id:
RCV000586883
dbSNP Id:
rs778196758
ExAC:
7:95035452 C / T
gnomAD v2:
7-95035452-C-T
gnomAD v3:
7-95406140-C-T
gnomAD v4:
7-95406140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95406140C>T , CM000669.2:g.95406140C>T | GRCh38 |
| NC_000007.13:g.95035452C>T , CM000669.1:g.95035452C>T | GRCh37 |
| NC_000007.12:g.94873388C>T | NCBI36 |
| NG_008725.1:g.33933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222572.8:c.885G>A MANE Select | ENSP00000222572.3:p.Pro295= | |
| ENST00000222572.7:c.885G>A | ENSP00000222572.3:p.Pro295= | |
| ENST00000433091.6:c.849G>A | ENSP00000404622.2:p.Pro283= | |
| ENST00000446142.5:c.*750G>A | ENSP00000405211.1:n.*750G>A | |
| ENST00000455123.5:c.*172G>A | ENSP00000414515.1:n.*172G>A | |
| ENST00000483292.5:c.467G>A | ||
| ENST00000633192.1:c.948G>A | ENSP00000488378.1:p.Pro316= | |
| ENST00000633531.1:c.885G>A | ENSP00000488838.1:p.Pro295= | |
| NM_000305.2:c.885G>A | NP_000296.2:p.Pro295= | |
| NM_001018161.1:c.849G>A | NP_001018171.1:p.Pro283= | |
| XM_005250453.1:c.681G>A | XP_005250510.1:p.Pro227= | |
| XM_005250454.1:c.675G>A | XP_005250511.1:p.Pro225= | |
| XM_011516333.1:c.627G>A | XP_011514635.1:p.Pro209= | |
| XM_017012357.2:c.675G>A | XP_016867846.1:p.Pro225= | |
| XM_017012358.2:c.627G>A | XP_016867847.1:p.Pro209= | |
| NM_000305.3:c.885G>A MANE Select | NP_000296.2:p.Pro295= | |
| NM_001018161.2:c.849G>A | NP_001018171.1:p.Pro283= |