Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842429A>T , CM000673.2:g.102842429A>T | GRCh38 |
| NC_000011.9:g.102713160A>T , CM000673.1:g.102713160A>T | GRCh37 |
| NC_000011.8:g.102218370A>T | NCBI36 |
| NG_012100.1:g.6183T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.499+2T>A MANE Select | ENSP00000299855.5:n.499+2T>A | |
| ENST00000299855.9:c.499+2T>A | ENSP00000299855.5:n.499+2T>A | |
| ENST00000524478.1:c.*341+2T>A | ENSP00000435255.1:n.*341+2T>A | |
| NM_002422.3:c.499+2T>A | NP_002413.1:n.499+2T>A | |
| NM_002422.4:c.499+2T>A | NP_002413.1:n.499+2T>A | |
| NM_002422.5:c.499+2T>A MANE Select | NP_002413.1:n.499+2T>A |