Linked Data
dbSNP Id:
rs779537917
ExAC:
3:39307239 C / A
gnomAD v2:
3-39307239-C-A
gnomAD v4:
3-39265748-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265748C>A , CM000665.2:g.39265748C>A | GRCh38 |
| NC_000003.11:g.39307239C>A , CM000665.1:g.39307239C>A | GRCh37 |
| NC_000003.10:g.39282243C>A | NCBI36 |
| NG_016362.1:g.20988G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.762G>T MANE Select | ENSP00000382166.3:p.Glu254Asp | |
| ENST00000358309.3:c.858G>T | ENSP00000351059.3:p.Glu286Asp | |
| ENST00000399220.2:c.762G>T | ENSP00000382166.2:p.Glu254Asp | |
| ENST00000541347.5:c.762G>T | ENSP00000439140.1:p.Glu254Asp | |
| ENST00000542107.5:c.762G>T | ENSP00000444928.1:p.Glu254Asp | |
| NM_001171171.1:c.762G>T | NP_001164642.1:p.Glu254Asp | |
| NM_001171172.1:c.762G>T | NP_001164643.1:p.Glu254Asp | |
| NM_001171174.1:c.858G>T | NP_001164645.1:p.Glu286Asp | |
| NM_001337.3:c.762G>T | NP_001328.1:p.Glu254Asp | |
| NM_001337.4:c.762G>T MANE Select | NP_001328.1:p.Glu254Asp | |
| NM_001171171.2:c.762G>T | NP_001164642.1:p.Glu254Asp | |
| NM_001171172.2:c.762G>T | NP_001164643.1:p.Glu254Asp |