Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102838791T>A , CM000673.2:g.102838791T>A | GRCh38 |
| NC_000011.9:g.102709522T>A , CM000673.1:g.102709522T>A | GRCh37 |
| NC_000011.8:g.102214732T>A | NCBI36 |
| NG_012100.1:g.9821A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002422.5:c.1070-81A>T MANE Select | NP_002413.1:n.1070-81A>T |
| ENST00000299855.10:c.1070-81A>T MANE Select | ENSP00000299855.5:n.1070-81A>T |
| NM_002422.3:c.1070-81A>T | NP_002413.1:n.1070-81A>T |
| NM_002422.4:c.1070-81A>T | NP_002413.1:n.1070-81A>T |
| ENST00000299855.9:c.1070-81A>T | ENSP00000299855.5:n.1070-81A>T |