Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20756549C>T , CM000686.2:g.20756549C>T | GRCh38 |
| NC_000024.9:g.22918435C>T , CM000686.1:g.22918435C>T | GRCh37 |
| NC_000024.8:g.21327823C>T | NCBI36 |
| NG_032924.1:g.5482C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.4-229C>T MANE Select | ENSP00000486252.1:n.4-229C>T | |
| ENST00000629237.1:c.4-229C>T | ENSP00000486252.1:n.4-229C>T | |
| NM_001039567.2:c.4-229C>T | NP_001034656.1:n.4-229C>T | |
| NM_001039567.3:c.4-229C>T MANE Select | NP_001034656.1:n.4-229C>T |