Linked Data
dbSNP Id:
rs756205397
gnomAD v2:
14-51372187-G-C
gnomAD v3:
14-50905469-G-C
gnomAD v4:
14-50905469-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905469G>C , CM000676.2:g.50905469G>C | GRCh38 |
| NC_000014.8:g.51372187G>C , CM000676.1:g.51372187G>C | GRCh37 |
| NC_000014.7:g.50441937G>C | NCBI36 |
| NG_012796.1:g.44062C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2467C>G MANE Select | ENSP00000216392.7:p.Gln823Glu | |
| ENST00000216392.7:c.2467C>G | ENSP00000216392.7:p.Gln823Glu | |
| ENST00000532462.5:c.2379+2802C>G | ENSP00000431657.1:n.2379+2802C>G | |
| ENST00000544180.6:c.2365C>G | ENSP00000443787.1:p.Gln789Glu | |
| NM_001163940.1:c.2365C>G | NP_001157412.1:p.Gln789Glu | |
| NM_002863.4:c.2467C>G | NP_002854.3:p.Gln823Glu | |
| NM_002863.5:c.2467C>G MANE Select | NP_002854.3:p.Gln823Glu | |
| NM_001163940.2:c.2365C>G | NP_001157412.1:p.Gln789Glu |