Linked Data
dbSNP Id:
rs952448606
gnomAD v2:
7-72856858-C-T
gnomAD v3:
7-73442528-C-T
gnomAD v4:
7-73442528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73442528C>T , CM000669.2:g.73442528C>T | GRCh38 |
| NC_000007.13:g.72856858C>T , CM000669.1:g.72856858C>T | GRCh37 |
| NC_000007.12:g.72494794C>T | NCBI36 |
| NG_027679.1:g.84758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339594.9:c.4120G>A MANE Select | ENSP00000342434.4:p.Glu1374Lys | |
| ENST00000339594.8:c.4120G>A | ENSP00000342434.4:p.Glu1374Lys | |
| ENST00000404251.1:c.4120G>A | ENSP00000385442.1:p.Glu1374Lys | |
| NM_032408.3:c.4120G>A | NP_115784.1:p.Glu1374Lys | |
| XM_017012773.2:c.4120G>A | XP_016868262.1:p.Glu1374Lys | |
| NM_032408.4:c.4120G>A MANE Select | NP_115784.1:p.Glu1374Lys | |
| NM_001370402.1:c.4120G>A | NP_001357331.1:p.Glu1374Lys |