Linked Data
dbSNP Id:
rs376585212
gnomAD v2:
14-101349040-C-G
gnomAD v3:
14-100882703-C-G
gnomAD v4:
14-100882703-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882703C>G , CM000676.2:g.100882703C>G | GRCh38 |
| NC_000014.8:g.101349040C>G , CM000676.1:g.101349040C>G | GRCh37 |
| NC_000014.7:g.100418793C>G | NCBI36 |
| NG_045001.1:g.7145G>C | |
| NG_045000.5:g.51435C>G | |
| NG_045000.6:g.51435C>G | |
| NG_045001.2:g.26020G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.2086G>C MANE Select | ENSP00000497482.1:p.Glu696Gln | |
| ENST00000534062.1:c.2086G>C | ENSP00000435342.1:p.Glu696Gln | |
| NM_001134888.2:c.2086G>C | NP_001128360.1:p.Glu696Gln | |
| NM_001134888.3:c.2086G>C MANE Select | NP_001128360.1:p.Glu696Gln |