Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8159243C>A , CM000679.2:g.8159243C>A | GRCh38 |
| NC_000017.10:g.8062561C>A , CM000679.1:g.8062561C>A | GRCh37 |
| NC_000017.9:g.8003286C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316509.11:c.*1612G>T MANE Select | ENSP00000314214.6:n.*1612G>T | |
| ENST00000316509.10:c.*1612G>T | ENSP00000314214.6:n.*1612G>T | |
| ENST00000498285.1:c.334+2230G>T | ENSP00000464383.1:n.334+2230G>T | |
| NM_014232.2:c.*1612G>T | NP_055047.2:n.*1612G>T | |
| NM_001330125.1:c.*1612G>T | NP_001317054.1:n.*1612G>T | |
| NM_014232.3:c.*1612G>T MANE Select | NP_055047.2:n.*1612G>T |