Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6720564A>G , CM000681.2:g.6720564A>G | GRCh38 |
| NC_000019.9:g.6720575A>G , CM000681.1:g.6720575A>G | GRCh37 |
| NC_000019.8:g.6671575A>G | NCBI36 |
| NG_009557.1:g.5088T>C , LRG_27:g.5088T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.26T>C MANE Select | NP_000055.2:p.Leu9Pro |
| ENST00000245907.11:c.26T>C MANE Select | ENSP00000245907.4:p.Leu9Pro |
| NM_000064.3:c.26T>C | NP_000055.2:p.Leu9Pro |
| ENST00000245907.10:c.26T>C | ENSP00000245907.4:p.Leu9Pro |
| ENST00000594936.1:n.87T>C | |
| ENST00000594936.2:n.87T>C | |
| ENST00000600744.1:c.-49-1161T>C | ENSP00000472044.1:n.-49-1161T>C |
| ENST00000695652.1:c.-333T>C | ENSP00000512083.1:n.-333T>C |
| ENST00000695693.1:c.26T>C | ENSP00000512104.1:p.Leu9Pro |