Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130381690C>T , CM000669.2:g.130381690C>T | GRCh38 |
| NC_000007.13:g.130021531C>T , CM000669.1:g.130021531C>T | GRCh37 |
| NC_000007.12:g.129808767C>T | NCBI36 |
| NG_042276.1:g.6320C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.208C>T MANE Select | NP_001859.1:p.Pro70Ser |
| ENST00000011292.8:c.208C>T MANE Select | ENSP00000011292.3:p.Pro70Ser |
| NM_001868.3:c.208C>T | NP_001859.1:p.Pro70Ser |
| ENST00000011292.7:c.208C>T | ENSP00000011292.3:p.Pro70Ser |
| ENST00000476062.5:c.-57C>T | ENSP00000419408.1:n.-57C>T |
| ENST00000481342.5:c.-57C>T | ENSP00000420218.1:n.-57C>T |
| ENST00000484324.1:c.-57C>T | ENSP00000419497.1:n.-57C>T |
| ENST00000491460.5:n.175-5C>T | |
| ENST00000604896.5:c.141+544C>T | ENSP00000475021.1:n.141+544C>T |