Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186398C>T , CM000668.2:g.52186398C>T | GRCh38 |
| NC_000006.11:g.52051196C>T , CM000668.1:g.52051196C>T | GRCh37 |
| NC_000006.10:g.52159155C>T | NCBI36 |
| NG_033021.1:g.5012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.-34C>T MANE Select | ENSP00000497968.1:n.-34C>T | |
| ENST00000340057.1:c.-34C>T | ENSP00000344192.1:n.-34C>T | |
| NM_002190.2:c.-34C>T | NP_002181.1:n.-34C>T | |
| NM_002190.3:c.-34C>T MANE Select | NP_002181.1:n.-34C>T |