Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532641G>T , CM000664.2:g.102532641G>T | GRCh38 |
| NC_000002.11:g.103149100G>T , CM000664.1:g.103149100G>T | GRCh37 |
| NC_000002.10:g.102515532G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001011552.4:c.2350G>T MANE Select | NP_001011552.2:p.Gly784Cys |
| ENST00000295269.5:c.2350G>T MANE Select | ENSP00000295269.4:p.Gly784Cys |
| NM_001011552.3:c.2350G>T | NP_001011552.2:p.Gly784Cys |
| ENST00000295269.4:c.2350G>T | ENSP00000295269.4:p.Gly784Cys |
| XM_011511158.1:c.2263G>T | XP_011509460.1:p.Gly755Cys |