Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132139G>T , CM000663.2:g.16132139G>T | GRCh38 |
| NC_000001.10:g.16458634G>T , CM000663.1:g.16458634G>T | GRCh37 |
| NC_000001.9:g.16331221G>T | NCBI36 |
| NG_021396.1:g.28949C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.2250C>A MANE Select | ENSP00000351209.5:p.Asn750Lys | |
| ENST00000358432.7:c.2250C>A | ENSP00000351209.5:p.Asn750Lys | |
| NM_004431.3:c.2250C>A | NP_004422.2:p.Asn750Lys | |
| NM_001329090.1:c.2088C>A | NP_001316019.1:p.Asn696Lys | |
| NM_004431.4:c.2250C>A | NP_004422.2:p.Asn750Lys | |
| NM_004431.5:c.2250C>A MANE Select | NP_004422.2:p.Asn750Lys | |
| NM_001329090.2:c.2088C>A | NP_001316019.1:p.Asn696Lys |