Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26414379A>G , CM000664.2:g.26414379A>G | GRCh38 |
| NC_000002.11:g.26637247A>G , CM000664.1:g.26637247A>G | GRCh37 |
| NC_000002.10:g.26490751A>G | NCBI36 |
| NG_042824.1:g.17468A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145038.5:c.191A>G MANE Select | NP_659475.2:p.Glu64Gly |
| ENST00000288710.7:c.191A>G MANE Select | ENSP00000288710.2:p.Glu64Gly |
| NM_145038.3:c.191A>G | NP_659475.2:p.Glu64Gly |
| NM_145038.4:c.191A>G | NP_659475.2:p.Glu64Gly |
| ENST00000288710.6:c.191A>G | ENSP00000288710.2:p.Glu64Gly |
| ENST00000421869.5:c.191A>G | ENSP00000414375.1:p.Glu64Gly |
| ENST00000649059.1:c.177A>G | |
| XM_005264637.3:c.-244A>G | XP_005264694.1:n.-244A>G |
| XM_017005271.1:c.-690A>G | XP_016860760.1:n.-690A>G |
| XM_024453218.1:c.-506A>G | XP_024308986.1:n.-506A>G |