Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130205009G>C , CM000671.2:g.130205009G>C | GRCh38 |
| NC_000009.11:g.132967288G>C , CM000671.1:g.132967288G>C | GRCh37 |
| NC_000009.10:g.132007109G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014286.4:c.89+4027G>C MANE Select | NP_055101.2:n.89+4027G>C |
| ENST00000372398.6:c.89+4027G>C MANE Select | ENSP00000361475.3:n.89+4027G>C |
| NM_001128826.1:c.35+4027G>C | NP_001122298.1:n.35+4027G>C |
| NM_001128826.2:c.35+4027G>C | NP_001122298.1:n.35+4027G>C |
| NM_014286.3:c.89+4027G>C | NP_055101.2:n.89+4027G>C |
| ENST00000372398.5:c.89+4027G>C | ENSP00000361475.3:n.89+4027G>C |
| ENST00000493042.1:n.143+4027G>C | |
| ENST00000630865.1:c.35+4027G>C | ENSP00000486695.1:n.35+4027G>C |