Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130380522T>C , CM000669.2:g.130380522T>C | GRCh38 |
| NC_000007.13:g.130020363T>C , CM000669.1:g.130020363T>C | GRCh37 |
| NC_000007.12:g.129807599T>C | NCBI36 |
| NG_042276.1:g.5152T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.2T>C MANE Select | NP_001859.1:p.Met1Thr |
| ENST00000011292.8:c.2T>C MANE Select | ENSP00000011292.3:p.Met1Thr |
| NM_001868.3:c.2T>C | NP_001859.1:p.Met1Thr |
| ENST00000011292.7:c.2T>C | ENSP00000011292.3:p.Met1Thr |
| ENST00000481342.5:c.-200+113T>C | ENSP00000420218.1:n.-200+113T>C |
| ENST00000491460.5:n.29T>C | |
| ENST00000604896.5:c.29T>C | ENSP00000475021.1:p.Met10Thr |