Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21778162T>G , CM000680.2:g.21778162T>G | GRCh38 |
| NC_000018.9:g.19358123T>G , CM000680.1:g.19358123T>G | GRCh37 |
| NC_000018.8:g.17612121T>G | NCBI36 |
| NG_033272.2:g.78206T>G , LRG_759:g.78206T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.696T>G MANE Select | ENSP00000261537.6:p.Pro232= | |
| ENST00000261537.6:c.696T>G | ENSP00000261537.6:p.Pro232= | |
| ENST00000578646.5:n.634T>G | ||
| NM_020774.3:c.696T>G , LRG_759t1:c.696T>G | NP_065825.1:p.Pro232= | |
| XR_935234.1:n.1487T>G | ||
| XR_935235.1:n.1487T>G | ||
| XM_017025873.1:c.180T>G | XP_016881362.1:p.Pro60= | |
| XM_017025874.1:c.696T>G | XP_016881363.1:p.Pro232= | |
| XM_017025875.1:c.696T>G | XP_016881364.1:p.Pro232= | |
| NM_020774.4:c.696T>G MANE Select | NP_065825.1:p.Pro232= |