Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954129C>T , CM000670.2:g.19954129C>T | GRCh38 |
| NC_000008.10:g.19811640C>T , CM000670.1:g.19811640C>T | GRCh37 |
| NC_000008.9:g.19855920C>T | NCBI36 |
| NG_008855.1:g.20059C>T | |
| NG_008855.2:g.57413C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.551C>T MANE Select | ENSP00000497642.1:p.Pro184Leu | |
| ENST00000311322.8:c.551C>T | ENSP00000309757.6:p.Pro184Leu | |
| ENST00000520959.5:c.323C>T | ENSP00000428496.1:p.Pro108Leu | |
| NM_000237.2:c.551C>T | NP_000228.1:p.Pro184Leu | |
| NM_000237.3:c.551C>T MANE Select | NP_000228.1:p.Pro184Leu |