Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.73123839C>G , CM000667.2:g.73123839C>G | GRCh38 |
| NC_000005.9:g.72419666C>G , CM000667.1:g.72419666C>G | GRCh37 |
| NC_000005.8:g.72455422C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173490.8:c.466C>G MANE Select | NP_775761.4:p.Arg156Gly |
| ENST00000454765.7:c.466C>G MANE Select | ENSP00000415030.2:p.Arg156Gly |
| NM_001161342.2:c.466C>G | NP_001154814.1:p.Arg156Gly |
| NM_001161342.3:c.466C>G | NP_001154814.1:p.Arg156Gly |
| NM_173490.7:c.466C>G | NP_775761.4:p.Arg156Gly |
| ENST00000287773.5:c.466C>G | ENSP00000287773.5:p.Arg156Gly |
| ENST00000454765.6:c.466C>G | ENSP00000415030.2:p.Arg156Gly |
| XM_011543156.1:c.466C>G | XP_011541458.1:p.Arg156Gly |
| XM_011543157.1:c.466C>G | XP_011541459.1:p.Arg156Gly |