Linked Data
ClinVar Variation Id:
3070406
ClinVar RCV Id:
RCV004012916
dbSNP Id:
rs1270817532
gnomAD v3:
15-48445441-A-G
gnomAD v4:
15-48445441-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445441A>G , CM000677.2:g.48445441A>G | GRCh38 |
| NC_000015.9:g.48737638A>G , CM000677.1:g.48737638A>G | GRCh37 |
| NC_000015.8:g.46524930A>G | NCBI36 |
| NG_008805.2:g.205348T>C , LRG_778:g.205348T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5852T>C | ENSP00000453958.2:p.Val1951Ala | |
| ENST00000674301.2:c.5852T>C | ENSP00000501333.2:p.Val1951Ala | |
| ENST00000684448.1:n.4526T>C | ||
| ENST00000316623.10:c.5852T>C MANE Select | ENSP00000325527.5:p.Val1951Ala | |
| ENST00000674301.1:c.851T>C | ENSP00000501333.1:p.Val284Ala | |
| ENST00000316623.9:c.5852T>C | ENSP00000325527.5:p.Val1951Ala | |
| ENST00000537463.6:c.*1615T>C | ENSP00000440294.2:n.*1615T>C | |
| ENST00000559133.5:c.1159T>C | ||
| NM_000138.4:c.5852T>C , LRG_778t1:c.5852T>C | NP_000129.3:p.Val1951Ala | |
| NM_000138.5:c.5852T>C MANE Select | NP_000129.3:p.Val1951Ala |