Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424825G>C , CM000671.2:g.101424825G>C | GRCh38 |
| NC_000009.11:g.104187107G>C , CM000671.1:g.104187107G>C | GRCh37 |
| NC_000009.10:g.103226928G>C | NCBI36 |
| NG_012387.1:g.15956C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.999+18C>G MANE Select | ENSP00000497767.1:n.999+18C>G | |
| ENST00000648064.1:c.999+18C>G | ENSP00000497990.1:n.999+18C>G | |
| ENST00000648758.1:c.999+18C>G | ENSP00000497731.1:n.999+18C>G | |
| ENST00000649902.1:c.1017C>G | ENSP00000497216.1:p.Leu339= | |
| ENST00000374855.8:c.999+18C>G | ENSP00000363988.4:n.999+18C>G | |
| ENST00000616752.1:c.*11+18C>G | ENSP00000481363.1:n.*11+18C>G | |
| NM_000035.3:c.999+18C>G | NP_000026.2:n.999+18C>G | |
| NM_000035.4:c.999+18C>G MANE Select | NP_000026.2:n.999+18C>G |