Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805918C>T , CM000668.2:g.35805918C>T | GRCh38 |
| NC_000006.11:g.35773695C>T , CM000668.1:g.35773695C>T | GRCh37 |
| NC_000006.10:g.35881673C>T | NCBI36 |
| NG_012184.1:g.5625C>T | |
| NG_012184.2:g.5625C>T | |
| NG_012184.3:g.13713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.248C>T MANE Select | ENSP00000353346.1:p.Pro83Leu | |
| ENST00000651132.1:c.248C>T | ENSP00000498322.1:p.Pro83Leu | |
| ENST00000651676.1:c.248C>T | ENSP00000498699.1:p.Pro83Leu | |
| ENST00000651994.1:c.248C>T | ENSP00000498310.1:p.Pro83Leu | |
| ENST00000652718.1:c.80C>T | ENSP00000498866.1:p.Pro27Leu | |
| ENST00000360215.2:c.248C>T | ENSP00000353346.1:p.Pro83Leu | |
| NM_182548.3:c.248C>T | NP_872354.1:p.Pro83Leu | |
| XM_011514403.1:c.248C>T | XP_011512705.1:p.Pro83Leu | |
| NM_182548.4:c.248C>T MANE Select | NP_872354.1:p.Pro83Leu |