Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83899263T>C , CM000678.2:g.83899263T>C | GRCh38 |
| NC_000016.9:g.83932868T>C , CM000678.1:g.83932868T>C | GRCh37 |
| NC_000016.8:g.82490369T>C | NCBI36 |
| NG_009079.1:g.5139T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262430.6:c.119T>C MANE Select | ENSP00000262430.4:p.Met40Thr | |
| ENST00000262430.5:c.119T>C | ENSP00000262430.4:p.Met40Thr | |
| NM_012213.2:c.119T>C | NP_036345.2:p.Met40Thr | |
| NM_012213.3:c.119T>C MANE Select | NP_036345.2:p.Met40Thr |