Linked Data
dbSNP Id:
rs369527542
ExAC:
2:21225606 G / C
gnomAD v2:
2-21225606-G-C
gnomAD v4:
2-21002734-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002734G>C , CM000664.2:g.21002734G>C | GRCh38 |
| NC_000002.11:g.21225606G>C , CM000664.1:g.21225606G>C | GRCh37 |
| NC_000002.10:g.21079111G>C | NCBI36 |
| NG_011793.1:g.46340C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.12688C>G MANE Select | ENSP00000233242.1:p.Gln4230Glu | |
| ENST00000616098.4:c.12688C>G | ENSP00000477990.1:p.Gln4230Glu | |
| NM_000384.2:c.12688C>G | NP_000375.2:p.Gln4230Glu | |
| XM_011532809.1:c.5870-3461C>G | XP_011531111.1:n.5870-3461C>G | |
| NM_000384.3:c.12688C>G MANE Select | NP_000375.3:p.Gln4230Glu |