Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.842395C>T , CM000671.2:g.842395C>T | GRCh38 |
| NC_000009.11:g.842395C>T , CM000671.1:g.842395C>T | GRCh37 |
| NC_000009.10:g.832395C>T | NCBI36 |
| NG_009221.1:g.5706C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021951.3:c.354+203C>T MANE Select | NP_068770.2:n.354+203C>T |
| ENST00000382276.8:c.354+203C>T MANE Select | ENSP00000371711.3:n.354+203C>T |
| NM_021951.2:c.354+203C>T | NP_068770.2:n.354+203C>T |
| ENST00000382276.7:c.354+203C>T | ENSP00000371711.3:n.354+203C>T |
| ENST00000564322.1:n.503+203C>T | |
| XM_006716732.1:c.354+203C>T | XP_006716795.1:n.354+203C>T |
| XM_017014375.1:c.354+203C>T | XP_016869864.1:n.354+203C>T |