Linked Data
dbSNP Id:
rs763846308
ExAC:
3:81754622 C / T
gnomAD v2:
3-81754622-C-T
gnomAD v4:
3-81705471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705471C>T , CM000665.2:g.81705471C>T | GRCh38 |
| NC_000003.11:g.81754622C>T , CM000665.1:g.81754622C>T | GRCh37 |
| NC_000003.10:g.81837312C>T | NCBI36 |
| NG_011810.1:g.61330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.286G>A MANE Select | ENSP00000410833.2:p.Glu96Lys | |
| ENST00000429644.6:c.286G>A | ENSP00000410833.2:p.Glu96Lys | |
| ENST00000489715.1:c.163G>A | ENSP00000419638.1:p.Glu55Lys | |
| NM_000158.3:c.286G>A | NP_000149.3:p.Glu96Lys | |
| NM_000158.4:c.286G>A MANE Select | NP_000149.4:p.Glu96Lys |