Linked Data
dbSNP Id:
rs747333973
ExAC:
1:159856398 C / G
gnomAD v2:
1-159856398-C-G
gnomAD v4:
1-159886608-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886608C>G , CM000663.2:g.159886608C>G | GRCh38 |
| NC_000001.10:g.159856398C>G , CM000663.1:g.159856398C>G | GRCh37 |
| NC_000001.9:g.158123022C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.670G>C MANE Select | ENSP00000357079.4:p.Glu224Gln | |
| ENST00000368099.8:c.670G>C | ENSP00000357079.4:p.Glu224Gln | |
| ENST00000426543.6:c.415G>C | ENSP00000403044.2:p.Glu139Gln | |
| ENST00000476696.5:c.670G>C | ENSP00000483972.1:p.Glu224Gln | |
| ENST00000479940.2:c.415G>C | ENSP00000478944.1:p.Glu139Gln | |
| NM_012337.2:c.670G>C | NP_036469.2:p.Glu224Gln | |
| NM_012337.3:c.670G>C MANE Select | NP_036469.2:p.Glu224Gln |