Linked Data
ClinVar Variation Id:
1425142
ClinVar RCV Id:
RCV001924299
dbSNP Id:
rs1315294969
gnomAD v2:
15-67073439-G-A
gnomAD v3:
15-66781101-G-A
gnomAD v4:
15-66781101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781101G>A , CM000677.2:g.66781101G>A | GRCh38 |
| NC_000015.9:g.67073439G>A , CM000677.1:g.67073439G>A | GRCh37 |
| NC_000015.8:g.64860493G>A | NCBI36 |
| NG_012244.1:g.83766G>A | |
| NG_012244.2:g.83766G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1057G>A MANE Select | ENSP00000288840.5:p.Ala353Thr | |
| ENST00000288840.9:c.1057G>A | ENSP00000288840.5:p.Ala353Thr | |
| ENST00000557916.5:c.1189G>A | ENSP00000452955.1:n.1189G>A | |
| ENST00000559931.5:c.361G>A | ENSP00000453446.1:n.361G>A | |
| NM_005585.4:c.1057G>A | NP_005576.3:p.Ala353Thr | |
| NR_027654.1:n.2112G>A | ||
| XM_011521561.1:c.274G>A | XP_011519863.1:p.Ala92Thr | |
| XR_931825.1:n.2456G>A | ||
| XM_011521561.2:c.274G>A | XP_011519863.1:p.Ala92Thr | |
| NM_005585.5:c.1057G>A MANE Select | NP_005576.3:p.Ala353Thr | |
| NR_027654.2:n.2212G>A |