Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039617T>G , CM000663.2:g.55039617T>G | GRCh38 |
| NC_000001.10:g.55505290T>G , CM000663.1:g.55505290T>G | GRCh37 |
| NC_000001.9:g.55277878T>G | NCBI36 |
| NG_009061.1:g.5071T>G , LRG_275:g.5071T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.-221T>G | ENSP00000501161.2:n.-221T>G | |
| ENST00000710286.1:c.137T>G | ENSP00000518176.1:p.Val46Gly | |
| ENST00000673726.1:c.-221T>G | ENSP00000501004.1:n.-221T>G | |
| ENST00000302118.5:c.-221T>G MANE Select | ENSP00000303208.5:n.-221T>G | |
| NM_174936.3:c.-221T>G , LRG_275t1:c.-221T>G | NP_777596.2:n.-221T>G | |
| NM_174936.4:c.-221T>G MANE Select | NP_777596.2:n.-221T>G |