Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729222C>T , CM000667.2:g.174729222C>T | GRCh38 |
| NC_000005.9:g.174156225C>T , CM000667.1:g.174156225C>T | GRCh37 |
| NC_000005.8:g.174088831C>T | NCBI36 |
| NG_008124.1:g.9651C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002449.5:c.443C>T MANE Select | NP_002440.2:p.Pro148Leu |
| ENST00000239243.7:c.443C>T MANE Select | ENSP00000239243.5:p.Pro148Leu |
| NM_001363626.1:c.*67C>T | NP_001350555.1:n.*67C>T |
| NM_001363626.2:c.*67C>T | NP_001350555.1:n.*67C>T |
| NM_002449.4:c.443C>T | NP_002440.2:p.Pro148Leu |
| ENST00000239243.6:c.443C>T | ENSP00000239243.5:p.Pro148Leu |
| ENST00000507785.2:c.*67C>T | ENSP00000427425.1:n.*67C>T |