Linked Data
ClinVar Variation Id:
453115
dbSNP Id:
rs763939921
ExAC:
12:116429331 G / A
gnomAD v2:
12-116429331-G-A
gnomAD v4:
12-115991526-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991526G>A , CM000674.2:g.115991526G>A | GRCh38 |
| NC_000012.11:g.116429331G>A , CM000674.1:g.116429331G>A | GRCh37 |
| NC_000012.10:g.114913714G>A | NCBI36 |
| NG_023366.1:g.290661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3428C>T MANE Select | ENSP00000281928.3:p.Ala1143Val | |
| ENST00000549786.2:c.2856C>T | ||
| ENST00000648379.1:n.1796C>T | ||
| ENST00000648737.1:n.3192C>T | ||
| ENST00000648825.1:n.168C>T | ||
| ENST00000648916.1:n.1439C>T | ||
| ENST00000649607.1:c.1612C>T | ||
| ENST00000650226.1:c.3428C>T | ENSP00000496981.1:p.Ala1143Val | |
| ENST00000281928.7:c.3428C>T | ENSP00000281928.3:p.Ala1143Val | |
| NM_015335.4:c.3428C>T | NP_056150.1:p.Ala1143Val | |
| XM_011538080.1:c.3428C>T | XP_011536382.1:p.Ala1143Val | |
| XM_011538081.1:c.3425C>T | XP_011536383.1:p.Ala1142Val | |
| XM_011538082.1:c.3398C>T | XP_011536384.1:p.Ala1133Val | |
| XM_011538080.2:c.3428C>T | XP_011536382.1:p.Ala1143Val | |
| XM_011538081.2:c.3425C>T | XP_011536383.1:p.Ala1142Val | |
| XM_011538082.2:c.3398C>T | XP_011536384.1:p.Ala1133Val | |
| XM_017019090.1:c.3425C>T | XP_016874579.1:p.Ala1142Val | |
| NM_015335.5:c.3428C>T MANE Select | NP_056150.1:p.Ala1143Val |