Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74613972G>T , CM000679.2:g.74613972G>T | GRCh38 |
| NC_000017.10:g.72610111G>T , CM000679.1:g.72610111G>T | GRCh37 |
| NC_000017.9:g.70121706G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181449.3:c.450C>A MANE Select | NP_852114.2:p.Asn150Lys |
| ENST00000392619.2:c.450C>A MANE Select | ENSP00000376395.2:p.Asn150Lys |
| NM_181449.2:c.450C>A | NP_852114.2:p.Asn150Lys |
| NR_158152.1:n.2503+7346G>T | |
| ENST00000392619.1:c.450C>A | ENSP00000376395.2:p.Asn150Lys |
| XR_001753011.1:n.2886+7346G>T | |
| XR_934974.1:n.607+7346G>T |