Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112418795C>G , CM000674.2:g.112418795C>G | GRCh38 |
| NC_000012.11:g.112856599C>G , CM000674.1:g.112856599C>G | GRCh37 |
| NC_000012.10:g.111340982C>G | NCBI36 |
| NG_007459.1:g.5064C>G , LRG_614:g.5064C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531326.1:n.287C>G (PTPN11) | ||
| ENST00000551291.6:c.-296G>C (RPL6) | ENSP00000448067.2:n.-296G>C | |
| NM_002834.3:c.-317C>G , LRG_614t1:c.-317C>G (PTPN11) | NP_002825.3:n.-317C>G | |
| NM_080601.1:c.-317C>G (PTPN11) | NP_542168.1:n.-317C>G | |
| XM_011538646.1:c.-296G>C (RPL6) | XP_011536948.1:n.-296G>C | |
| NM_001320141.1:c.-296G>C (RPL6) | NP_001307070.1:n.-296G>C | |
| XM_017019781.1:c.-1324G>C (RPL6) | XP_016875270.1:n.-1324G>C | |
| NM_001320141.2:c.-296G>C (RPL6) | NP_001307070.1:n.-296G>C |