Linked Data
dbSNP Id:
rs762263186
ExAC:
1:159856336 C / G
gnomAD v2:
1-159856336-C-G
gnomAD v4:
1-159886546-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886546C>G , CM000663.2:g.159886546C>G | GRCh38 |
| NC_000001.10:g.159856336C>G , CM000663.1:g.159856336C>G | GRCh37 |
| NC_000001.9:g.158122960C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.732G>C MANE Select | ENSP00000357079.4:p.Glu244Asp | |
| ENST00000368099.8:c.732G>C | ENSP00000357079.4:p.Glu244Asp | |
| ENST00000426543.6:c.477G>C | ENSP00000403044.2:p.Glu159Asp | |
| ENST00000476696.5:c.732G>C | ENSP00000483972.1:p.Glu244Asp | |
| NM_012337.2:c.732G>C | NP_036469.2:p.Glu244Asp | |
| NM_012337.3:c.732G>C MANE Select | NP_036469.2:p.Glu244Asp |