Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68838707T>G , CM000685.2:g.68838707T>G | GRCh38 |
| NC_000023.10:g.68058550T>G , CM000685.1:g.68058550T>G | GRCh37 |
| NC_000023.9:g.67975275T>G | NCBI36 |
| NG_008887.1:g.14711T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.219T>G MANE Select | ENSP00000204961.4:p.Tyr73Ter | |
| ENST00000204961.4:c.219T>G | ENSP00000204961.4:p.Tyr73Ter | |
| NM_004429.4:c.219T>G | NP_004420.1:p.Tyr73Ter | |
| NM_004429.5:c.219T>G MANE Select | NP_004420.1:p.Tyr73Ter |