Linked Data
ClinVar Variation Id:
2039062
ClinVar RCV Id:
RCV002907783
dbSNP Id:
rs370710158
ExAC:
11:2187890 G / T
gnomAD v2:
11-2187890-G-T
gnomAD v4:
11-2166660-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166660G>T , CM000673.2:g.2166660G>T | GRCh38 |
| NC_000011.9:g.2187890G>T , CM000673.1:g.2187890G>T | GRCh37 |
| NC_000011.8:g.2144466G>T | NCBI36 |
| NG_008128.1:g.10146C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.950C>A MANE Select | ENSP00000325951.4:p.Ala317Glu | |
| ENST00000324155.8:c.*639C>A | ENSP00000325831.3:n.*639C>A | |
| ENST00000333684.9:c.696-111C>A | ENSP00000328814.6:n.696-111C>A | |
| ENST00000352909.7:c.950C>A | ENSP00000325951.3:p.Ala317Glu | |
| ENST00000381168.7:c.*670C>A | ENSP00000370560.3:n.*670C>A | |
| ENST00000381175.5:c.1031C>A | ENSP00000370567.1:p.Ala344Glu | |
| ENST00000381178.5:c.1043C>A | ENSP00000370571.1:p.Ala348Glu | |
| ENST00000412076.1:c.136-111C>A | ||
| ENST00000416223.5:c.244C>A | ||
| ENST00000461172.1:n.115C>A | ||
| ENST00000479437.5:n.499C>A | ||
| NM_000360.3:c.950C>A | NP_000351.2:p.Ala317Glu | |
| NM_199292.2:c.1043C>A | NP_954986.2:p.Ala348Glu | |
| NM_199293.2:c.1031C>A | NP_954987.2:p.Ala344Glu | |
| XM_011520335.1:c.962C>A | XP_011518637.1:p.Ala321Glu | |
| XM_011520335.2:c.962C>A | XP_011518637.1:p.Ala321Glu | |
| NM_000360.4:c.950C>A MANE Select | NP_000351.2:p.Ala317Glu | |
| NM_199292.3:c.1043C>A | NP_954986.2:p.Ala348Glu | |
| NM_199293.3:c.1031C>A | NP_954987.2:p.Ala344Glu |