gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102840607T>A , CM000673.2:g.102840607T>A | GRCh38 |
| NC_000011.9:g.102711338T>A , CM000673.1:g.102711338T>A | GRCh37 |
| NC_000011.8:g.102216548T>A | NCBI36 |
| NG_012100.1:g.8005A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.626-14A>T MANE Select | ENSP00000299855.5:n.626-14A>T | |
| ENST00000299855.9:c.626-14A>T | ENSP00000299855.5:n.626-14A>T | |
| NM_002422.3:c.626-14A>T | NP_002413.1:n.626-14A>T | |
| NM_002422.4:c.626-14A>T | NP_002413.1:n.626-14A>T | |
| NM_002422.5:c.626-14A>T MANE Select | NP_002413.1:n.626-14A>T |