Linked Data
ClinVar Variation Id:
656070
ClinVar RCV Id:
RCV000812388
dbSNP Id:
rs1595733562
gnomAD v4:
15-38299475-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299475C>G , CM000677.2:g.38299475C>G | GRCh38 |
| NC_000015.9:g.38591676C>G , CM000677.1:g.38591676C>G | GRCh37 |
| NC_000015.8:g.36378968C>G | NCBI36 |
| NG_008980.1:g.51625C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.135C>G MANE Select | ENSP00000299084.4:p.Phe45Leu | |
| ENST00000299084.8:c.135C>G | ENSP00000299084.4:p.Phe45Leu | |
| ENST00000561205.1:n.473C>G | ||
| ENST00000561317.1:c.72C>G | ENSP00000453680.1:p.Phe24Leu | |
| NM_152594.2:c.135C>G | NP_689807.1:p.Phe45Leu | |
| XM_005254202.2:c.171C>G | XP_005254259.1:p.Phe57Leu | |
| XM_005254203.3:c.-15-22766C>G | XP_005254260.1:n.-15-22766C>G | |
| XM_011521288.1:c.72C>G | XP_011519590.1:p.Phe24Leu | |
| XM_011521289.1:c.72C>G | XP_011519591.1:p.Phe24Leu | |
| XM_011521290.1:c.72C>G | XP_011519592.1:p.Phe24Leu | |
| XM_005254202.3:c.171C>G | XP_005254259.1:p.Phe57Leu | |
| XM_011521289.3:c.72C>G | XP_011519591.1:p.Phe24Leu | |
| NM_152594.3:c.135C>G MANE Select | NP_689807.1:p.Phe45Leu |