Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74715647C>T , CM000667.2:g.74715647C>T | GRCh38 |
| NC_000005.9:g.74011472C>T , CM000667.1:g.74011472C>T | GRCh37 |
| NC_000005.8:g.74047228C>T | NCBI36 |
| NG_009770.1:g.35504C>T | |
| NG_009770.2:g.80625C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1039C>T MANE Select | NP_000512.2:p.Gln347Ter |
| ENST00000261416.12:c.1039C>T MANE Select | ENSP00000261416.7:p.Gln347Ter |
| NM_000521.3:c.1039C>T | NP_000512.1:p.Gln347Ter |
| NM_001292004.1:c.364C>T | NP_001278933.1:p.Gln122Ter |
| NM_001292004.2:c.364C>T | NP_001278933.1:p.Gln122Ter |
| ENST00000261416.11:c.1039C>T | ENSP00000261416.7:p.Gln347Ter |
| ENST00000504459.5:n.236C>T | |
| ENST00000511181.5:c.364C>T | ENSP00000426285.1:p.Gln122Ter |
| ENST00000511621.1:n.2C>T | |
| ENST00000513336.5:c.62C>T |