Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177995875T>G , CM000667.2:g.177995875T>G | GRCh38 |
| NC_000005.9:g.177422876T>G , CM000667.1:g.177422876T>G | GRCh37 |
| NC_000005.8:g.177355482T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006261.5:c.59A>C MANE Select | NP_006252.4:p.Asn20Thr |
| ENST00000308304.2:c.59A>C MANE Select | ENSP00000311290.2:p.Asn20Thr |