Linked Data
ClinVar Variation Id:
779887
ClinVar RCV Id:
RCV000960856
dbSNP Id:
rs147350117
ExAC:
5:114860397 G / A
gnomAD v2:
5-114860397-G-A
gnomAD v3:
5-115524700-G-A
gnomAD v4:
5-115524700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.115524700G>A , CM000667.2:g.115524700G>A | GRCh38 |
| NC_000005.9:g.114860397G>A , CM000667.1:g.114860397G>A | GRCh37 |
| NC_000005.8:g.114888296G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274457.5:c.1462C>T MANE Select | ENSP00000274457.3:p.Leu488= | |
| ENST00000274457.4:c.1462C>T | ENSP00000274457.3:p.Leu488= | |
| NM_020177.2:c.1462C>T | NP_064562.1:p.Leu488= | |
| XM_005272035.3:c.1462C>T | XP_005272092.1:p.Leu488= | |
| XM_011543515.1:c.1003C>T | XP_011541817.1:p.Leu335= | |
| XM_005272035.5:c.1462C>T | XP_005272092.1:p.Leu488= | |
| XM_017009647.2:c.1003C>T | XP_016865136.1:p.Leu335= | |
| NM_020177.3:c.1462C>T MANE Select | NP_064562.1:p.Leu488= |