Linked Data
dbSNP Id:
rs2303138
ExAC:
5:96350710 G / A
gnomAD v2:
5-96350710-G-A
gnomAD v3:
5-97015006-G-A
gnomAD v4:
5-97015006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.97015006G>A , CM000667.2:g.97015006G>A | GRCh38 |
| NC_000005.9:g.96350710G>A , CM000667.1:g.96350710G>A | GRCh37 |
| NC_000005.8:g.96376466G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231368.10:c.2287G>A MANE Select | ENSP00000231368.5:p.Ala763Thr | |
| ENST00000231368.9:c.2287G>A | ENSP00000231368.5:p.Ala763Thr | |
| ENST00000395770.3:c.2245G>A | ENSP00000379117.3:p.Ala749Thr | |
| NM_005575.2:c.2287G>A | NP_005566.2:p.Ala763Thr | |
| NM_175920.3:c.2245G>A | NP_787116.2:p.Ala749Thr | |
| XM_024446045.1:c.2287G>A | XP_024301813.1:p.Ala763Thr | |
| NM_005575.3:c.2287G>A MANE Select | NP_005566.2:p.Ala763Thr | |
| NM_175920.4:c.2245G>A | NP_787116.2:p.Ala749Thr |