Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12101197A>G , CM000672.2:g.12101197A>G | GRCh38 |
| NC_000010.10:g.12143196A>G , CM000672.1:g.12143196A>G | GRCh37 |
| NC_000010.9:g.12183202A>G | NCBI36 |
| NG_033248.1:g.37281A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.1896+16A>G MANE Select | ENSP00000263035.4:n.1896+16A>G | |
| ENST00000263035.8:c.1896+16A>G | ENSP00000263035.4:n.1896+16A>G | |
| ENST00000448829.1:c.550+16A>G | ||
| NM_018706.6:c.1896+16A>G | NP_061176.3:n.1896+16A>G | |
| NM_018706.7:c.1896+16A>G MANE Select | NP_061176.4:n.1896+16A>G |