Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053292C>T , CM000664.2:g.223053292C>T | GRCh38 |
| NC_000002.11:g.223918010C>T , CM000664.1:g.223918010C>T | GRCh37 |
| NC_000002.10:g.223626254C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.462C>T MANE Select | ENSP00000281830.5:p.Pro154= | |
| ENST00000281830.3:c.615C>T | ENSP00000281830.4:p.Pro205= | |
| ENST00000488477.2:n.75+1018C>T | ||
| NM_080671.3:c.615C>T | NP_542402.3:p.Pro205= | |
| NM_080671.4:c.462C>T MANE Select | NP_542402.4:p.Pro154= |