Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56609274T>G , CM000678.2:g.56609274T>G | GRCh38 |
| NC_000016.9:g.56643186T>G , CM000678.1:g.56643186T>G | GRCh37 |
| NC_000016.8:g.55200687T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005953.5:c.106T>G MANE Select | NP_005944.1:p.Cys36Gly |
| ENST00000245185.6:c.106T>G MANE Select | ENSP00000245185.5:p.Cys36Gly |
| NM_005953.3:c.106T>G | NP_005944.1:p.Cys36Gly |
| NM_005953.4:c.106T>G | NP_005944.1:p.Cys36Gly |
| ENST00000245185.5:c.106T>G | ENSP00000245185.5:p.Cys36Gly |
| ENST00000561491.1:c.*89T>G | ENSP00000456804.1:n.*89T>G |
| ENST00000562017.1:n.680T>G | |
| ENST00000563985.1:n.486T>G | |
| ENST00000567300.1:n.193T>G |