Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143471000T>C , CM000668.2:g.143471000T>C | GRCh38 |
| NC_000006.11:g.143792137T>C , CM000668.1:g.143792137T>C | GRCh37 |
| NC_000006.10:g.143833830T>C | NCBI36 |
| NG_008459.1:g.25220T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.371T>C MANE Select | ENSP00000356563.4:p.Met124Thr | |
| ENST00000367591.4:c.371T>C | ENSP00000356563.4:p.Met124Thr | |
| ENST00000367592.5:c.239T>C | ENSP00000356564.1:p.Met80Thr | |
| NM_003630.2:c.371T>C | NP_003621.1:p.Met124Thr | |
| NM_003630.3:c.371T>C MANE Select | NP_003621.1:p.Met124Thr |