Linked Data
dbSNP Id:
rs759604436
ExAC:
8:23049304 T / C
gnomAD v2:
8-23049304-T-C
gnomAD v3:
8-23191791-T-C
gnomAD v4:
8-23191791-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191791T>C , CM000670.2:g.23191791T>C | GRCh38 |
| NC_000008.10:g.23049304T>C , CM000670.1:g.23049304T>C | GRCh37 |
| NC_000008.9:g.23105249T>C | NCBI36 |
| NG_032107.1:g.38377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1310A>G MANE Select | ENSP00000221132.3:p.Glu437Gly | |
| ENST00000221132.7:c.1310A>G | ENSP00000221132.3:p.Glu437Gly | |
| ENST00000613472.1:c.836A>G | ENSP00000480778.1:p.Glu279Gly | |
| NM_003844.3:c.1310A>G | NP_003835.3:p.Glu437Gly | |
| NM_003844.4:c.1310A>G MANE Select | NP_003835.3:p.Glu437Gly |