Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102840431T>C , CM000673.2:g.102840431T>C | GRCh38 |
| NC_000011.9:g.102711162T>C , CM000673.1:g.102711162T>C | GRCh37 |
| NC_000011.8:g.102216372T>C | NCBI36 |
| NG_012100.1:g.8181A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.788A>G MANE Select | ENSP00000299855.5:p.Tyr263Cys | |
| ENST00000299855.9:c.788A>G | ENSP00000299855.5:p.Tyr263Cys | |
| NM_002422.3:c.788A>G | NP_002413.1:p.Tyr263Cys | |
| NM_002422.4:c.788A>G | NP_002413.1:p.Tyr263Cys | |
| NM_002422.5:c.788A>G MANE Select | NP_002413.1:p.Tyr263Cys |