Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20994171C>T , CM000684.2:g.20994171C>T | GRCh38 |
| NC_000022.10:g.21348460C>T , CM000684.1:g.21348460C>T | GRCh37 |
| NC_000022.9:g.19678460C>T | NCBI36 |
| NG_034193.1:g.16903C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1517C>T MANE Select | NP_006758.2:p.Pro506Leu |
| ENST00000646124.2:c.1517C>T MANE Select | ENSP00000496779.1:p.Pro506Leu |
| NM_006767.3:c.1517C>T | NP_006758.2:p.Pro506Leu |
| ENST00000215739.12:c.1517C>T | ENSP00000215739.8:p.Pro506Leu |
| ENST00000479606.5:n.1663C>T | |
| ENST00000492480.1:n.566C>T | |
| ENST00000495142.6:n.862C>T | |
| ENST00000642151.1:c.1348C>T | |
| ENST00000643578.1:n.1539C>T | |
| ENST00000643710.1:n.378C>T | |
| ENST00000646506.1:n.1096C>T | |
| ENST00000700578.1:c.1517C>T | ENSP00000515073.1:p.Pro506Leu |