Linked Data
ClinVar Variation Id:
1623594
ClinVar RCV Id:
RCV003053428
dbSNP Id:
rs776778115
ExAC:
1:245027145 C / T
gnomAD v2:
1-245027145-C-T
gnomAD v4:
1-244863843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863843C>T , CM000663.2:g.244863843C>T | GRCh38 |
| NC_000001.10:g.245027145C>T , CM000663.1:g.245027145C>T | GRCh37 |
| NC_000001.9:g.243093768C>T | NCBI36 |
| NG_042184.1:g.5683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.143G>A | ||
| ENST00000283179.14:c.465G>A | ENSP00000283179.10:p.Glu155= | |
| ENST00000444376.7:c.465G>A | ENSP00000393151.2:p.Glu155= | |
| ENST00000476241.2:n.650G>A | ||
| ENST00000638475.1:c.249G>A | ENSP00000491305.1:p.Glu83= | |
| ENST00000638952.1:n.696G>A | ||
| ENST00000640218.2:c.465G>A MANE Select | ENSP00000491215.1:p.Glu155= | |
| ENST00000640306.1:c.465G>A | ENSP00000491685.1:p.Glu155= | |
| ENST00000640440.1:c.165G>A | ENSP00000491263.1:p.Glu55= | |
| ENST00000649899.1:n.689G>A | ||
| ENST00000283179.13:c.465G>A | ENSP00000283179.9:p.Glu155= | |
| ENST00000444376.6:c.465G>A | ENSP00000393151.2:p.Glu155= | |
| ENST00000476241.1:n.649G>A | ||
| NM_004501.3:c.465G>A | NP_004492.2:p.Glu155= | |
| NM_031844.2:c.465G>A | NP_114032.2:p.Glu155= | |
| NM_031844.3:c.465G>A MANE Select | NP_114032.2:p.Glu155= |