Linked Data
ClinVar Variation Id:
1427649
ClinVar RCV Id:
RCV001945968
dbSNP Id:
rs2116242366
gnomAD v4:
7-92517286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517286C>T , CM000669.2:g.92517286C>T | GRCh38 |
| NC_000007.13:g.92146600C>T , CM000669.1:g.92146600C>T | GRCh37 |
| NC_000007.12:g.91984536C>T | NCBI36 |
| NG_008341.1:g.16246G>A | |
| NG_008341.2:g.16246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1229G>A MANE Select | ENSP00000248633.4:p.Gly410Glu | |
| ENST00000248633.8:c.1229G>A | ENSP00000248633.4:p.Gly410Glu | |
| ENST00000422866.1:c.130G>A | ||
| ENST00000428214.5:c.1229G>A | ENSP00000394413.1:p.Gly410Glu | |
| ENST00000438045.5:c.274-3319G>A | ENSP00000410438.1:n.274-3319G>A | |
| ENST00000484913.5:n.1268G>A | ||
| NM_000466.2:c.1229G>A | NP_000457.1:p.Gly410Glu | |
| NM_001282677.1:c.1229G>A | NP_001269606.1:p.Gly410Glu | |
| NM_001282678.1:c.605G>A | NP_001269607.1:p.Gly202Glu | |
| XR_242246.3:n.1325G>A | ||
| XM_017012319.2:c.-438G>A | XP_016867808.1:n.-438G>A | |
| XR_001744808.2:n.339G>A | ||
| XR_242246.5:n.1276G>A | ||
| NM_000466.3:c.1229G>A MANE Select | NP_000457.1:p.Gly410Glu | |
| NM_001282677.2:c.1229G>A | NP_001269606.1:p.Gly410Glu | |
| NM_001282678.2:c.605G>A | NP_001269607.1:p.Gly202Glu |