gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74006209A>C , CM000673.2:g.74006209A>C | GRCh38 |
| NC_000011.9:g.73717254A>C , CM000673.1:g.73717254A>C | GRCh37 |
| NC_000011.8:g.73394902A>C | NCBI36 |
| NG_011515.1:g.8029T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314032.9:c.297T>G MANE Select | ENSP00000323740.4:p.Tyr99Ter | |
| ENST00000314032.8:c.297T>G | ENSP00000323740.4:p.Tyr99Ter | |
| ENST00000426995.2:c.297T>G | ENSP00000392143.2:p.Tyr99Ter | |
| NM_003356.3:c.297T>G | NP_003347.1:p.Tyr99Ter | |
| NM_022803.2:c.297T>G | NP_073714.1:p.Tyr99Ter | |
| XR_950298.1:n.1768+10175A>C | ||
| NM_003356.4:c.297T>G MANE Select | NP_003347.1:p.Tyr99Ter | |
| NM_022803.3:c.297T>G | NP_073714.1:p.Tyr99Ter |