Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.27824443C>T , CM000668.2:g.27824443C>T | GRCh38 |
| NC_000006.11:g.27792221C>T , CM000668.1:g.27792221C>T | GRCh37 |
| NC_000006.10:g.27900200C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021968.4:c.*7C>T MANE Select | NP_068803.1:n.*7C>T |
| ENST00000355057.3:c.*7C>T MANE Select | ENSP00000347168.2:n.*7C>T |
| NM_021968.3:c.319C>T | NP_068803.1:n.319C>T |
| ENST00000355057.2:c.*7C>T | ENSP00000347168.1:n.*7C>T |