Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51366325A>G , CM000681.2:g.51366325A>G | GRCh38 |
| NC_000019.9:g.51869579A>G , CM000681.1:g.51869579A>G | GRCh37 |
| NC_000019.8:g.56561391A>G | NCBI36 |
| NG_007115.1:g.5094T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.2T>C MANE Select | NP_001976.1:p.Met1Thr |
| ENST00000309244.9:c.2T>C MANE Select | ENSP00000311930.3:p.Met1Thr |
| NM_001985.2:c.2T>C | NP_001976.1:p.Met1Thr |
| ENST00000309244.8:c.2T>C | ENSP00000311930.3:p.Met1Thr |
| ENST00000593992.1:n.25T>C | |
| ENST00000596253.1:c.2T>C | ENSP00000469628.1:p.Met1Thr |
| ENST00000600067.1:c.115+1561T>C | ENSP00000469452.1:n.115+1561T>C |