Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8079523A>G , CM000679.2:g.8079523A>G | GRCh38 |
| NC_000017.10:g.7982841A>G , CM000679.1:g.7982841A>G | GRCh37 |
| NC_000017.9:g.7923566A>G | NCBI36 |
| NG_007099.1:g.13181T>C | |
| NG_007099.2:g.13194T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.944T>C MANE Select | NP_001130.1:p.Leu315Pro |
| ENST00000647874.1:c.944T>C MANE Select | ENSP00000497784.1:p.Leu315Pro |
| NM_001139.2:c.944T>C | NP_001130.1:p.Leu315Pro |
| ENST00000319144.4:c.944T>C | ENSP00000315167.4:p.Leu315Pro |
| ENST00000583276.5:n.328T>C | |
| ENST00000584116.1:n.327+246T>C | |
| ENST00000649809.1:c.135+246T>C | ENSP00000496845.1:n.135+246T>C |
| XR_001752778.1:n.32A>G |