Linked Data
ClinVar Variation Id:
2842988
ClinVar RCV Id:
RCV003723726
dbSNP Id:
rs755040583
ExAC:
15:72103941 C / G
gnomAD v2:
15-72103941-C-G
gnomAD v4:
15-71811601-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811601C>G , CM000677.2:g.71811601C>G | GRCh38 |
| NC_000015.9:g.72103941C>G , CM000677.1:g.72103941C>G | GRCh37 |
| NC_000015.8:g.69890995C>G | NCBI36 |
| NG_009113.2:g.6047C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.237C>G MANE Select | ENSP00000482504.1:p.Leu79= | |
| ENST00000617575.4:c.237C>G | ENSP00000482504.1:p.Leu79= | |
| ENST00000621098.1:c.237C>G | ENSP00000479962.1:p.Leu79= | |
| ENST00000621736.4:c.-28C>G | ENSP00000479254.1:n.-28C>G | |
| NM_014249.3:c.237C>G | NP_055064.1:p.Leu79= | |
| NM_016346.3:c.237C>G | NP_057430.1:p.Leu79= | |
| XM_011521146.1:c.-28C>G | XP_011519448.1:n.-28C>G | |
| NM_014249.4:c.237C>G MANE Select | NP_055064.1:p.Leu79= | |
| NM_016346.4:c.237C>G | NP_057430.1:p.Leu79= |