Linked Data
ClinVar Variation Id:
590965
ClinVar RCV Id:
RCV000770957
dbSNP Id:
rs900988907
gnomAD v4:
15-66781048-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781048C>A , CM000677.2:g.66781048C>A | GRCh38 |
| NC_000015.9:g.67073386C>A , CM000677.1:g.67073386C>A | GRCh37 |
| NC_000015.8:g.64860440C>A | NCBI36 |
| NG_012244.1:g.83713C>A | |
| NG_012244.2:g.83713C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1004C>A MANE Select | ENSP00000288840.5:p.Ala335Glu | |
| ENST00000288840.9:c.1004C>A | ENSP00000288840.5:p.Ala335Glu | |
| ENST00000557916.5:c.1136C>A | ENSP00000452955.1:n.1136C>A | |
| ENST00000559931.5:c.308C>A | ENSP00000453446.1:n.308C>A | |
| NM_005585.4:c.1004C>A | NP_005576.3:p.Ala335Glu | |
| NR_027654.1:n.2059C>A | ||
| XM_011521561.1:c.221C>A | XP_011519863.1:p.Ala74Glu | |
| XR_931825.1:n.2403C>A | ||
| XM_011521561.2:c.221C>A | XP_011519863.1:p.Ala74Glu | |
| NM_005585.5:c.1004C>A MANE Select | NP_005576.3:p.Ala335Glu | |
| NR_027654.2:n.2159C>A |