Linked Data
ClinVar Variation Id:
182578
dbSNP Id:
rs144412585
gnomAD v4:
2-47478349-C-T
PubMed:
PMID:24278394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47478349C>T , CM000664.2:g.47478349C>T | GRCh38 |
| NC_000002.11:g.47705488C>T , CM000664.1:g.47705488C>T | GRCh37 |
| NC_000002.10:g.47558992C>T | NCBI36 |
| NG_007110.2:g.80226C>T , LRG_218:g.80226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2288C>T | ENSP00000495641.2:p.Ala763Val | |
| ENST00000233146.7:c.2288C>T MANE Select | ENSP00000233146.2:p.Ala763Val | |
| ENST00000543555.6:c.2090C>T | ENSP00000442697.1:p.Ala697Val | |
| ENST00000644092.1:c.*588C>T | ENSP00000496351.1:n.*588C>T | |
| ENST00000644900.1:c.141C>T | ||
| ENST00000645339.1:c.2288C>T | ENSP00000496441.1:p.Ala763Val | |
| ENST00000645506.1:c.2288C>T | ENSP00000495455.1:p.Ala763Val | |
| ENST00000646415.1:c.2288C>T | ENSP00000495543.1:p.Ala763Val | |
| ENST00000233146.6:c.2288C>T | ENSP00000233146.2:p.Ala763Val | |
| ENST00000406134.5:c.2288C>T | ENSP00000384199.1:p.Ala763Val | |
| ENST00000543555.5:c.2090C>T | ENSP00000442697.1:p.Ala697Val | |
| ENST00000610696.4:c.*684C>T | ENSP00000483159.1:n.*684C>T | |
| ENST00000613514.4:c.*828C>T | ENSP00000484137.1:n.*828C>T | |
| ENST00000617333.3:c.*1054C>T | ENSP00000482468.1:n.*1054C>T | |
| ENST00000617938.4:c.*1260C>T | ENSP00000481158.1:n.*1260C>T | |
| ENST00000621359.2:c.2288C>T | ENSP00000481416.1:p.Ala763Val | |
| NM_000251.2:c.2288C>T , LRG_218t1:c.2288C>T | NP_000242.1:p.Ala763Val | |
| NM_001258281.1:c.2090C>T | NP_001245210.1:p.Ala697Val | |
| XM_005264332.2:c.2288C>T | XP_005264389.2:p.Ala763Val | |
| XM_011532867.1:c.2288C>T | XP_011531169.1:p.Ala763Val | |
| XR_939685.1:n.2360C>T | ||
| XM_005264332.4:c.2288C>T | XP_005264389.2:p.Ala763Val | |
| XM_011532867.2:c.2288C>T | XP_011531169.1:p.Ala763Val | |
| XR_001738747.2:n.2350C>T | ||
| XR_939685.2:n.2350C>T | ||
| NM_000251.3:c.2288C>T MANE Select | NP_000242.1:p.Ala763Val |