Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1428247G>C , CM000667.2:g.1428247G>C | GRCh38 |
| NC_000005.9:g.1428362G>C , CM000667.1:g.1428362G>C | GRCh37 |
| NC_000005.8:g.1481362G>C | NCBI36 |
| NG_015885.1:g.22182C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.653+4217C>G MANE Select | ENSP00000270349.9:n.653+4217C>G | |
| ENST00000270349.11:c.653+4217C>G | ENSP00000270349.9:n.653+4217C>G | |
| NM_001044.4:c.653+4217C>G | NP_001035.1:n.653+4217C>G | |
| NM_001044.5:c.653+4217C>G MANE Select | NP_001035.1:n.653+4217C>G |