Linked Data
ClinVar Variation Id:
822964
ClinVar RCV Id:
RCV001018762
dbSNP Id:
rs26279
ExAC:
5:80168937 G / A
gnomAD v2:
5-80168937-G-A
gnomAD v3:
5-80873118-G-A
gnomAD v4:
5-80873118-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80873118G>A , CM000667.2:g.80873118G>A | GRCh38 |
| NC_000005.9:g.80168937G>A , CM000667.1:g.80168937G>A | GRCh37 |
| NC_000005.8:g.80204693G>A | NCBI36 |
| NG_016607.1:g.223644G>A | |
| NG_016607.2:g.223644G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265081.7:c.3133G>A MANE Select | ENSP00000265081.6:p.Ala1045Thr | |
| ENST00000658259.1:c.2965G>A | ENSP00000499617.1:p.Ala989Thr | |
| ENST00000659302.1:c.541G>A | ||
| ENST00000667069.1:c.2938G>A | ENSP00000499502.1:p.Ala980Thr | |
| ENST00000670357.1:c.*457G>A | ENSP00000499791.1:n.*457G>A | |
| ENST00000265081.6:c.3133G>A | ENSP00000265081.6:p.Ala1045Thr | |
| NM_002439.4:c.3133G>A | NP_002430.3:p.Ala1045Thr | |
| NM_002439.5:c.3133G>A MANE Select | NP_002430.3:p.Ala1045Thr |