Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75765136T>G , CM000679.2:g.75765136T>G | GRCh38 |
| NC_000017.10:g.73761217T>G , CM000679.1:g.73761217T>G | GRCh37 |
| NC_000017.9:g.71272812T>G | NCBI36 |
| NG_008079.1:g.5064A>C | |
| NG_008079.2:g.5064A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000154.2:c.1A>C MANE Select | NP_000145.1:p.Met1Leu |
| ENST00000588479.6:c.1A>C MANE Select | ENSP00000465930.1:p.Met1Leu |
| NM_000154.1:c.1A>C | NP_000145.1:p.Met1Leu |
| NM_001381985.1:c.1A>C | NP_001368914.1:p.Met1Leu |
| ENST00000225614.6:c.1A>C | ENSP00000225614.1:p.Met1Leu |
| ENST00000586244.1:c.1A>C | ENSP00000468288.1:p.Met1Leu |
| ENST00000587707.2:c.1A>C | ENSP00000468341.2:p.Met1Leu |
| ENST00000588479.5:c.1A>C | ENSP00000465930.1:p.Met1Leu |
| ENST00000592494.1:n.22A>C | |
| ENST00000592997.6:c.1A>C | ENSP00000464765.2:p.Met1Leu |