Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30444407T>C , CM000678.2:g.30444407T>C | GRCh38 |
| NC_000016.9:g.30455728T>C , CM000678.1:g.30455728T>C | GRCh37 |
| NC_000016.8:g.30363229T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012248.4:c.1321A>G MANE Select | NP_036380.2:p.Asn441Asp |
| ENST00000478753.5:c.1321A>G MANE Select | ENSP00000418669.3:p.Asn441Asp |
| NM_012248.3:c.1321A>G | NP_036380.2:p.Asn441Asp |
| ENST00000478753.3:c.1321A>G | ENSP00000418669.3:p.Asn441Asp |