Linked Data
dbSNP Id:
rs780273268
ExAC:
2:20205557 C / A
gnomAD v2:
2-20205557-C-A
gnomAD v4:
2-20005796-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005796C>A , CM000664.2:g.20005796C>A | GRCh38 |
| NC_000002.11:g.20205557C>A , CM000664.1:g.20205557C>A | GRCh37 |
| NC_000002.10:g.20069038C>A | NCBI36 |
| NG_008087.1:g.11899G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.738G>T MANE Select | ENSP00000383894.3:p.Glu246Asp | |
| ENST00000407540.7:c.738G>T | ENSP00000383894.3:p.Glu246Asp | |
| ENST00000421259.2:c.738G>T | ENSP00000398753.2:p.Glu246Asp | |
| NM_002381.4:c.738G>T | NP_002372.1:p.Glu246Asp | |
| NM_002381.5:c.738G>T MANE Select | NP_002372.1:p.Glu246Asp |