Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67583826G>T , CM000673.2:g.67583826G>T | GRCh38 |
| NC_000011.9:g.67351297G>T , CM000673.1:g.67351297G>T | GRCh37 |
| NC_000011.8:g.67107873G>T | NCBI36 |
| NG_012075.1:g.5232G>T , LRG_723:g.5232G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000852.4:c.-18G>T MANE Select | NP_000843.1:n.-18G>T |
| ENST00000398606.10:c.-18G>T MANE Select | ENSP00000381607.3:n.-18G>T |
| NM_000852.3:c.-18G>T , LRG_723t1:c.-18G>T | NP_000843.1:n.-18G>T |
| ENST00000398603.5:c.-18G>T | ENSP00000381604.1:n.-18G>T |
| ENST00000398603.6:c.-18G>T | ENSP00000381604.1:n.-18G>T |
| ENST00000398606.7:c.-18G>T | ENSP00000381607.3:n.-18G>T |
| ENST00000494593.1:n.5G>T |