Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116882345A>G , CM000668.2:g.116882345A>G | GRCh38 |
| NC_000006.11:g.117203508A>G , CM000668.1:g.117203508A>G | GRCh37 |
| NC_000006.10:g.117310201A>G | NCBI36 |
| NG_027699.1:g.10133A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332958.3:c.505-22A>G MANE Select | ENSP00000332208.2:n.505-22A>G | |
| ENST00000332958.2:c.505-22A>G | ENSP00000332208.2:n.505-22A>G | |
| ENST00000487683.5:n.569-22A>G | ||
| NM_173560.3:c.505-22A>G | NP_775831.2:n.505-22A>G | |
| XM_011535589.1:c.505-22A>G | XP_011533891.1:n.505-22A>G | |
| XM_017010477.1:c.127-22A>G | XP_016865966.1:n.127-22A>G | |
| NM_173560.4:c.505-22A>G MANE Select | NP_775831.2:n.505-22A>G |