Linked Data
dbSNP Id:
rs760868833
ExAC:
1:101005543 G / C
gnomAD v2:
1-101005543-G-C
gnomAD v3:
1-100539987-G-C
gnomAD v4:
1-100539987-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539987G>C , CM000663.2:g.100539987G>C | GRCh38 |
| NC_000001.10:g.101005543G>C , CM000663.1:g.101005543G>C | GRCh37 |
| NC_000001.9:g.100778131G>C | NCBI36 |
| NG_053134.1:g.6816G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.1021G>C MANE Select | ENSP00000314223.4:p.Glu341Gln | |
| ENST00000315033.4:c.1021G>C | ENSP00000314223.4:p.Glu341Gln | |
| NM_022049.2:c.1021G>C | NP_071332.2:p.Glu341Gln | |
| NM_022049.3:c.1021G>C MANE Select | NP_071332.2:p.Glu341Gln |