Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135952943A>G , CM000667.2:g.135952943A>G | GRCh38 |
| NC_000005.9:g.135288632A>G , CM000667.1:g.135288632A>G | GRCh37 |
| NC_000005.8:g.135316531A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002302.3:c.71T>C MANE Select | NP_002293.2:p.Ile24Thr |
| ENST00000274507.6:c.71T>C MANE Select | ENSP00000274507.1:p.Ile24Thr |
| NM_002302.2:c.71T>C | NP_002293.2:p.Ile24Thr |
| ENST00000274507.5:c.71T>C | ENSP00000274507.1:p.Ile24Thr |
| ENST00000471827.1:n.174T>C | |
| ENST00000512872.1:c.-146T>C | ENSP00000427012.1:n.-146T>C |
| ENST00000514447.2:c.71T>C | ENSP00000421123.2:p.Ile24Thr |
| ENST00000522943.5:c.71T>C | ENSP00000429618.1:p.Ile24Thr |