Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652328A>G , CM000663.2:g.171652328A>G | GRCh38 |
| NC_000001.10:g.171621468A>G , CM000663.1:g.171621468A>G | GRCh37 |
| NC_000001.9:g.169888091A>G | NCBI36 |
| NG_008859.1:g.5306T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000261.2:c.284T>C MANE Select | NP_000252.1:p.Leu95Pro |
| ENST00000037502.11:c.284T>C MANE Select | ENSP00000037502.5:p.Leu95Pro |
| NM_000261.1:c.284T>C | NP_000252.1:p.Leu95Pro |
| ENST00000037502.10:c.284T>C | ENSP00000037502.5:p.Leu95Pro |
| ENST00000614688.1:c.284T>C | ENSP00000478680.1:p.Leu95Pro |
| ENST00000638471.1:c.130+154T>C | ENSP00000491206.1:n.130+154T>C |