Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6361747T>G , CM000681.2:g.6361747T>G | GRCh38 |
| NC_000019.9:g.6361758T>G , CM000681.1:g.6361758T>G | GRCh37 |
| NC_000019.8:g.6312758T>G | NCBI36 |
| NG_033887.1:g.5296T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006012.4:c.173T>G MANE Select | NP_006003.1:p.Leu58Arg |
| ENST00000245816.11:c.173T>G MANE Select | ENSP00000245816.3:p.Leu58Arg |
| NM_006012.2:c.173T>G | NP_006003.1:p.Leu58Arg |
| NM_006012.3:c.173T>G | NP_006003.1:p.Leu58Arg |
| ENST00000245816.8:c.173T>G | ENSP00000245816.3:p.Leu58Arg |
| ENST00000594780.1:n.74T>G | |
| ENST00000596070.1:n.183T>G | |
| ENST00000597326.5:c.1T>G | ENSP00000470098.1:p.Ser1Ala |
| ENST00000597326.6:c.1T>G |