Linked Data
dbSNP Id:
rs779294634
ExAC:
5:135382149 G / A
gnomAD v2:
5-135382149-G-A
gnomAD v3:
5-136046460-G-A
gnomAD v4:
5-136046460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046460G>A , CM000667.2:g.136046460G>A | GRCh38 |
| NC_000005.9:g.135382149G>A , CM000667.1:g.135382149G>A | GRCh37 |
| NC_000005.8:g.135410048G>A | NCBI36 |
| NG_012646.1:g.22566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.424G>A MANE Select | ENSP00000416330.2:p.Ala142Thr | |
| ENST00000442011.6:c.424G>A | ENSP00000416330.2:p.Ala142Thr | |
| ENST00000506699.5:n.489G>A | ||
| ENST00000507018.5:c.341G>A | ||
| ENST00000515433.1:n.716G>A | ||
| NM_000358.2:c.424G>A | NP_000349.1:p.Ala142Thr | |
| NM_000358.3:c.424G>A MANE Select | NP_000349.1:p.Ala142Thr |