Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19353167C>T , CM000664.2:g.19353167C>T | GRCh38 |
| NC_000002.11:g.19552928C>T , CM000664.1:g.19552928C>T | GRCh37 |
| NC_000002.10:g.19416409C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272223.3:c.639G>A MANE Select | ENSP00000272223.2:p.Arg213= | |
| ENST00000272223.2:c.639G>A | ENSP00000272223.2:p.Arg213= | |
| ENST00000487581.1:n.3746G>A | ||
| NM_145260.2:c.639G>A | NP_660303.1:p.Arg213= | |
| XM_006711942.2:c.639G>A | XP_006712005.1:p.Arg213= | |
| XM_006711942.4:c.639G>A | XP_006712005.1:p.Arg213= | |
| NM_145260.3:c.639G>A MANE Select | NP_660303.1:p.Arg213= |