Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168486500T>C , CM000667.2:g.168486500T>C | GRCh38 |
| NC_000005.9:g.167913505T>C , CM000667.1:g.167913505T>C | GRCh37 |
| NC_000005.8:g.167846083T>C | NCBI36 |
| NG_041809.1:g.5043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231572.8:c.2T>C MANE Select | ENSP00000231572.3:p.Met1Thr | |
| ENST00000231572.7:c.2T>C | ENSP00000231572.3:p.Met1Thr | |
| ENST00000520013.5:c.2T>C | ENSP00000429030.1:p.Met1Thr | |
| ENST00000521329.5:c.2T>C | ENSP00000428494.1:p.Met1Thr | |
| ENST00000521939.5:n.15T>C | ||
| ENST00000522834.5:c.2T>C | ENSP00000430035.1:p.Met1Thr | |
| ENST00000524082.5:n.50T>C | ||
| ENST00000626454.1:c.2T>C | ENSP00000486284.1:p.Met1Thr | |
| NM_002887.3:c.2T>C | NP_002878.2:p.Met1Thr | |
| NM_002887.4:c.2T>C MANE Select | NP_002878.2:p.Met1Thr |