Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713575C>T , CM000667.2:g.74713575C>T | GRCh38 |
| NC_000005.9:g.74009400C>T , CM000667.1:g.74009400C>T | GRCh37 |
| NC_000005.8:g.74045156C>T | NCBI36 |
| NG_009770.1:g.33432C>T | |
| NG_009770.2:g.78553C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.841C>T MANE Select | NP_000512.2:p.Arg281Ter |
| ENST00000261416.12:c.841C>T MANE Select | ENSP00000261416.7:p.Arg281Ter |
| NM_000521.3:c.841C>T | NP_000512.1:p.Arg281Ter |
| NM_001292004.1:c.166C>T | NP_001278933.1:p.Arg56Ter |
| NM_001292004.2:c.166C>T | NP_001278933.1:p.Arg56Ter |
| ENST00000261416.11:c.841C>T | ENSP00000261416.7:p.Arg281Ter |
| ENST00000504459.5:n.38C>T | |
| ENST00000511181.5:c.166C>T | ENSP00000426285.1:p.Arg56Ter |