Linked Data
ClinVar Variation Id:
1322183
dbSNP Id:
rs1173000590
gnomAD v2:
10-104594628-C-A
gnomAD v4:
10-102834871-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102834871C>A , CM000672.2:g.102834871C>A | GRCh38 |
| NC_000010.10:g.104594628C>A , CM000672.1:g.104594628C>A | GRCh37 |
| NC_000010.9:g.104584618C>A | NCBI36 |
| NG_007955.1:g.7663G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.580G>T MANE Select | ENSP00000358903.3:p.Glu194Ter | |
| ENST00000638190.1:c.580G>T | ENSP00000492539.1:p.Glu194Ter | |
| ENST00000638272.1:c.298-1663G>T | ENSP00000491508.1:n.298-1663G>T | |
| ENST00000638971.1:c.580G>T | ENSP00000492313.1:p.Glu194Ter | |
| ENST00000639393.1:c.580G>T | ENSP00000492651.1:p.Glu194Ter | |
| ENST00000640633.1:n.342G>T | ||
| ENST00000369887.3:c.580G>T | ENSP00000358903.3:p.Glu194Ter | |
| ENST00000489268.1:n.834G>T | ||
| NM_000102.3:c.580G>T | NP_000093.1:p.Glu194Ter | |
| NM_000102.4:c.580G>T MANE Select | NP_000093.1:p.Glu194Ter |