Linked Data
dbSNP Id:
rs774589411
ExAC:
5:135382094 C / A
gnomAD v2:
5-135382094-C-A
gnomAD v4:
5-136046405-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046405C>A , CM000667.2:g.136046405C>A | GRCh38 |
| NC_000005.9:g.135382094C>A , CM000667.1:g.135382094C>A | GRCh37 |
| NC_000005.8:g.135409993C>A | NCBI36 |
| NG_012646.1:g.22511C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.369C>A MANE Select | ENSP00000416330.2:p.Asp123Glu | |
| ENST00000442011.6:c.369C>A | ENSP00000416330.2:p.Asp123Glu | |
| ENST00000504185.5:n.526C>A | ||
| ENST00000506699.5:n.434C>A | ||
| ENST00000507018.5:c.286C>A | ||
| ENST00000515433.1:n.661C>A | ||
| NM_000358.2:c.369C>A | NP_000349.1:p.Asp123Glu | |
| NM_000358.3:c.369C>A MANE Select | NP_000349.1:p.Asp123Glu |