Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160731856C>T , CM000668.2:g.160731856C>T | GRCh38 |
| NC_000006.11:g.161152888C>T , CM000668.1:g.161152888C>T | GRCh37 |
| NC_000006.10:g.161072878C>T | NCBI36 |
| NG_016200.1:g.34664C>T , LRG_571:g.34664C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000301.5:c.1550C>T MANE Select | NP_000292.1:p.Thr517Ile |
| ENST00000308192.14:c.1550C>T MANE Select | ENSP00000308938.9:p.Thr517Ile |
| NM_000301.3:c.1550C>T , LRG_571t1:c.1550C>T | NP_000292.1:p.Thr517Ile |
| NM_000301.4:c.1550C>T | NP_000292.1:p.Thr517Ile |
| ENST00000297289.9:c.503C>T | ENSP00000516619.1:p.Thr168Ile |
| ENST00000308192.13:c.1550C>T | ENSP00000308938.9:p.Thr517Ile |
| ENST00000418964.2:c.1601C>T | ENSP00000389424.2:p.Thr534Ile |
| ENST00000706906.1:c.1550C>T | ENSP00000516618.1:p.Thr517Ile |
| ENST00000706907.1:n.26C>T |