Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913287T>C , CM000674.2:g.110913287T>C | GRCh38 |
| NC_000012.11:g.111351091T>C , CM000674.1:g.111351091T>C | GRCh37 |
| NC_000012.10:g.109835474T>C | NCBI36 |
| NG_007554.1:g.12291A>G , LRG_393:g.12291A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.312A>G MANE Select | ENSP00000228841.8:p.Lys104= | |
| ENST00000663220.1:c.255A>G | ENSP00000499568.1:p.Lys85= | |
| ENST00000228841.12:c.312A>G | ENSP00000228841.7:p.Lys104= | |
| ENST00000548438.1:c.270A>G | ENSP00000447154.1:p.Lys90= | |
| ENST00000549029.1:n.143A>G | ||
| NM_000432.3:c.312A>G , LRG_393t1:c.312A>G | NP_000423.2:p.Lys104= | |
| NM_000432.4:c.312A>G MANE Select | NP_000423.2:p.Lys104= |