Linked Data
ClinVar Variation Id:
13573
ClinVar RCV Id:
RCV000014541
dbSNP Id:
rs6092
ExAC:
7:100771717 G / A
gnomAD v2:
7-100771717-G-A
gnomAD v3:
7-101128436-G-A
gnomAD v4:
7-101128436-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101128436G>A , CM000669.2:g.101128436G>A | GRCh38 |
| NC_000007.13:g.100771717G>A , CM000669.1:g.100771717G>A | GRCh37 |
| NC_000007.12:g.100558437G>A | NCBI36 |
| NG_013213.1:g.6339G>A , LRG_597:g.6339G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223095.5:c.43G>A MANE Select | ENSP00000223095.4:p.Ala15Thr | |
| ENST00000223095.4:c.43G>A | ENSP00000223095.4:p.Ala15Thr | |
| NM_000602.4:c.43G>A , LRG_597t1:c.43G>A | NP_000593.1:p.Ala15Thr | |
| NM_000602.5:c.43G>A MANE Select | NP_000593.1:p.Ala15Thr | |
| NM_001386456.1:c.-32-178G>A | NP_001373385.1:n.-32-178G>A | |
| NM_001386457.1:c.43G>A | NP_001373386.1:p.Ala15Thr | |
| NM_001386458.1:c.43G>A | NP_001373387.1:p.Ala15Thr | |
| NM_001386459.1:c.43G>A | NP_001373388.1:p.Ala15Thr | |
| NM_001386460.1:c.43G>A | NP_001373389.1:p.Ala15Thr | |
| NM_001386461.1:c.43G>A | NP_001373390.1:p.Ala15Thr | |
| NM_001386462.1:c.-69-90G>A | NP_001373391.1:n.-69-90G>A | |
| NM_001386463.1:c.37G>A | NP_001373392.1:p.Ala13Thr | |
| NM_001386464.1:c.43G>A | NP_001373393.1:p.Ala15Thr | |
| NM_001386465.1:c.43G>A | NP_001373394.1:p.Ala15Thr | |
| NM_001386466.1:c.43G>A | NP_001373395.1:p.Ala15Thr |