Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532658G>T , CM000664.2:g.102532658G>T | GRCh38 |
| NC_000002.11:g.103149117G>T , CM000664.1:g.103149117G>T | GRCh37 |
| NC_000002.10:g.102515549G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295269.5:c.2367G>T MANE Select | ENSP00000295269.4:p.Arg789Ser | |
| ENST00000295269.4:c.2367G>T | ENSP00000295269.4:p.Arg789Ser | |
| NM_001011552.3:c.2367G>T | NP_001011552.2:p.Arg789Ser | |
| XM_011511158.1:c.2280G>T | XP_011509460.1:p.Arg760Ser | |
| NM_001011552.4:c.2367G>T MANE Select | NP_001011552.2:p.Arg789Ser |