Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913252G>C , CM000674.2:g.110913252G>C | GRCh38 |
| NC_000012.11:g.111351056G>C , CM000674.1:g.111351056G>C | GRCh37 |
| NC_000012.10:g.109835439G>C | NCBI36 |
| NG_007554.1:g.12326C>G , LRG_393:g.12326C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.347C>G MANE Select | ENSP00000228841.8:p.Ala116Gly | |
| ENST00000663220.1:c.290C>G | ENSP00000499568.1:p.Ala97Gly | |
| ENST00000228841.12:c.347C>G | ENSP00000228841.7:p.Ala116Gly | |
| ENST00000548438.1:c.305C>G | ENSP00000447154.1:p.Ala102Gly | |
| ENST00000549029.1:n.178C>G | ||
| NM_000432.3:c.347C>G , LRG_393t1:c.347C>G | NP_000423.2:p.Ala116Gly | |
| NM_000432.4:c.347C>G MANE Select | NP_000423.2:p.Ala116Gly |