Linked Data
ClinVar Variation Id:
2971863
ClinVar RCV Id:
RCV003832925
dbSNP Id:
rs367603365
gnomAD v2:
15-72103899-C-G
gnomAD v3:
15-71811559-C-G
gnomAD v4:
15-71811559-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811559C>G , CM000677.2:g.71811559C>G | GRCh38 |
| NC_000015.9:g.72103899C>G , CM000677.1:g.72103899C>G | GRCh37 |
| NC_000015.8:g.69890953C>G | NCBI36 |
| NG_009113.2:g.6005C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.195C>G MANE Select | ENSP00000482504.1:p.Asn65Lys | |
| ENST00000617575.4:c.195C>G | ENSP00000482504.1:p.Asn65Lys | |
| ENST00000621098.1:c.195C>G | ENSP00000479962.1:p.Asn65Lys | |
| ENST00000621736.4:c.-70C>G | ENSP00000479254.1:n.-70C>G | |
| NM_014249.3:c.195C>G | NP_055064.1:p.Asn65Lys | |
| NM_016346.3:c.195C>G | NP_057430.1:p.Asn65Lys | |
| XM_011521146.1:c.-70C>G | XP_011519448.1:n.-70C>G | |
| NM_014249.4:c.195C>G MANE Select | NP_055064.1:p.Asn65Lys | |
| NM_016346.4:c.195C>G | NP_057430.1:p.Asn65Lys |