Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4724550C>T , CM000682.2:g.4724550C>T | GRCh38 |
| NC_000020.10:g.4705196C>T , CM000682.1:g.4705196C>T | GRCh37 |
| NC_000020.9:g.4653196C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305817.3:c.-2C>T MANE Select | ENSP00000306900.2:n.-2C>T | |
| ENST00000305817.2:c.-2C>T | ENSP00000306900.2:n.-2C>T | |
| NM_012409.3:c.-2C>T | NP_036541.2:n.-2C>T | |
| NM_012409.4:c.-2C>T MANE Select | NP_036541.2:n.-2C>T |