Linked Data
ClinVar Variation Id:
214971
dbSNP Id:
rs768767735
ExAC:
8:94935882 C / T
gnomAD v2:
8-94935882-C-T
gnomAD v4:
8-93923654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923654C>T , CM000670.2:g.93923654C>T | GRCh38 |
| NC_000008.10:g.94935882C>T , CM000670.1:g.94935882C>T | GRCh37 |
| NC_000008.9:g.95005058C>T | NCBI36 |
| NG_012233.1:g.11721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.1595C>T MANE Select | ENSP00000297598.4:p.Ala532Val | |
| ENST00000297598.4:c.1595C>T | ENSP00000297598.4:p.Ala532Val | |
| ENST00000396200.3:c.1670C>T | ENSP00000379503.3:p.Ala557Val | |
| ENST00000517764.1:c.1595C>T | ENSP00000430380.1:p.Ala532Val | |
| ENST00000520728.5:c.1595C>T | ENSP00000428317.1:p.Ala532Val | |
| NM_001161779.1:c.1670C>T | NP_001155251.1:p.Ala557Val | |
| NM_001161780.1:c.1670C>T | NP_001155252.1:p.Ala557Val | |
| NM_001161781.1:c.1595C>T | NP_001155253.1:p.Ala532Val | |
| NM_018444.3:c.1595C>T | NP_060914.2:p.Ala532Val | |
| XM_011517135.1:c.1649C>T | XP_011515437.1:p.Ala550Val | |
| XM_011517136.1:c.1595C>T | XP_011515438.1:p.Ala532Val | |
| XM_011517137.1:c.1595C>T | XP_011515439.1:p.Ala532Val | |
| XM_011517135.2:c.1649C>T | XP_011515437.1:p.Ala550Val | |
| XM_011517136.2:c.1595C>T | XP_011515438.1:p.Ala532Val | |
| XM_017013588.1:c.1757C>T | XP_016869077.1:p.Ala586Val | |
| NM_018444.4:c.1595C>T MANE Select | NP_060914.2:p.Ala532Val | |
| NM_001161780.2:c.1670C>T | NP_001155252.1:p.Ala557Val | |
| NM_001161781.2:c.1595C>T | NP_001155253.1:p.Ala532Val | |
| NM_001161779.2:c.1670C>T | NP_001155251.1:p.Ala557Val |