Linked Data
dbSNP Id:
rs780087093
ExAC:
5:95734737 G / A
gnomAD v2:
5-95734737-G-A
gnomAD v3:
5-96399033-G-A
gnomAD v4:
5-96399033-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96399033G>A , CM000667.2:g.96399033G>A | GRCh38 |
| NC_000005.9:g.95734737G>A , CM000667.1:g.95734737G>A | GRCh37 |
| NC_000005.8:g.95760493G>A | NCBI36 |
| NG_021161.1:g.39249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1434C>T MANE Select | ENSP00000308024.2:p.Ala478= | |
| ENST00000311106.7:c.1434C>T | ENSP00000308024.2:p.Ala478= | |
| ENST00000508626.5:c.1293C>T | ENSP00000421600.1:p.Ala431= | |
| ENST00000513085.1:n.577C>T | ||
| NM_000439.4:c.1434C>T | NP_000430.3:p.Ala478= | |
| NM_001177875.1:c.1293C>T | NP_001171346.1:p.Ala431= | |
| NR_130776.1:n.354+19381G>A | ||
| NM_000439.5:c.1434C>T MANE Select | NP_000430.3:p.Ala478= | |
| NM_001177875.2:c.1293C>T | NP_001171346.1:p.Ala431= |