Linked Data
dbSNP Id:
rs747018156
ExAC:
15:40914062 G / A
gnomAD v2:
15-40914062-G-A
gnomAD v3:
15-40621864-G-A
gnomAD v4:
15-40621864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40621864G>A , CM000677.2:g.40621864G>A | GRCh38 |
| NC_000015.9:g.40914062G>A , CM000677.1:g.40914062G>A | GRCh37 |
| NC_000015.8:g.38701354G>A | NCBI36 |
| NG_033114.1:g.32616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.1600G>A MANE Select | ENSP00000382576.3:p.Val534Ile | |
| ENST00000346991.9:c.1678G>A | ENSP00000335463.6:p.Val560Ile | |
| ENST00000399668.6:c.1600G>A | ENSP00000382576.2:p.Val534Ile | |
| ENST00000527044.5:c.1600G>A | ENSP00000432654.2:p.Val534Ile | |
| ENST00000533001.1:n.1745G>A | ||
| ENST00000534204.1:c.116-7460G>A | ENSP00000453857.1:n.116-7460G>A | |
| ENST00000614337.4:n.1916G>A | ||
| NM_144508.4:c.1600G>A | NP_653091.3:p.Val534Ile | |
| NM_170589.4:c.1678G>A | NP_733468.3:p.Val560Ile | |
| XM_011521816.1:c.1276G>A | XP_011520118.1:p.Val426Ile | |
| XM_011521817.1:c.1600G>A | XP_011520119.1:p.Val534Ile | |
| XM_017022432.1:c.1276G>A | XP_016877921.1:p.Val426Ile | |
| NM_144508.5:c.1600G>A MANE Select | NP_653091.3:p.Val534Ile | |
| NM_170589.5:c.1678G>A | NP_733468.3:p.Val560Ile |