Linked Data
ClinVar Variation Id:
2084455
ClinVar RCV Id:
RCV002994717
dbSNP Id:
rs1050037375
gnomAD v2:
4-100504547-T-C
gnomAD v4:
4-99583390-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583390T>C , CM000666.2:g.99583390T>C | GRCh38 |
| NC_000004.11:g.100504547T>C , CM000666.1:g.100504547T>C | GRCh37 |
| NC_000004.10:g.100723570T>C | NCBI36 |
| NG_011469.1:g.24308T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.266T>C MANE Select | ENSP00000265517.5:p.Val89Ala | |
| ENST00000457717.6:c.266T>C | ENSP00000400821.1:p.Val89Ala | |
| ENST00000505094.6:c.17T>C | ENSP00000422782.2:p.Val6Ala | |
| ENST00000511045.6:c.17T>C | ENSP00000427679.2:p.Val6Ala | |
| ENST00000265517.9:c.266T>C | ENSP00000265517.5:p.Val89Ala | |
| ENST00000422897.6:c.266T>C | ENSP00000407350.2:p.Val89Ala | |
| ENST00000457717.5:c.266T>C | ENSP00000400821.1:p.Val89Ala | |
| ENST00000505094.5:c.*356T>C | ENSP00000422782.1:n.*356T>C | |
| ENST00000506883.5:c.296T>C | ENSP00000426755.1:p.Val99Ala | |
| ENST00000511045.5:c.347T>C | ENSP00000427679.1:p.Val116Ala | |
| ENST00000513404.5:c.*329T>C | ENSP00000424972.1:n.*329T>C | |
| ENST00000515141.5:c.*329T>C | ENSP00000425642.1:n.*329T>C | |
| ENST00000619629.1:c.266T>C | ENSP00000482850.1:p.Val89Ala | |
| NM_000253.3:c.266T>C | NP_000244.2:p.Val89Ala | |
| NM_001300785.1:c.347T>C | NP_001287714.1:p.Val116Ala | |
| NM_000253.4:c.266T>C | NP_000244.2:p.Val89Ala | |
| NM_001300785.2:c.17T>C | NP_001287714.2:p.Val6Ala | |
| NM_001386140.1:c.266T>C MANE Select | NP_001373069.1:p.Val89Ala |