Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73450539A>G , CM000669.2:g.73450539A>G | GRCh38 |
| NC_000007.13:g.72864869A>G , CM000669.1:g.72864869A>G | GRCh37 |
| NC_000007.12:g.72502805A>G | NCBI36 |
| NG_027679.1:g.76747T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032408.4:c.3580+308T>C MANE Select | NP_115784.1:n.3580+308T>C |
| ENST00000339594.9:c.3580+308T>C MANE Select | ENSP00000342434.4:n.3580+308T>C |
| NM_001370402.1:c.3580+308T>C | NP_001357331.1:n.3580+308T>C |
| NM_032408.3:c.3580+308T>C | NP_115784.1:n.3580+308T>C |
| ENST00000339594.8:c.3580+308T>C | ENSP00000342434.4:n.3580+308T>C |
| ENST00000404251.1:c.3580+308T>C | ENSP00000385442.1:n.3580+308T>C |
| XM_017012773.2:c.3580+308T>C | XP_016868262.1:n.3580+308T>C |