Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665936A>C , CM000679.2:g.39665936A>C | GRCh38 |
| NC_000017.10:g.37822189A>C , CM000679.1:g.37822189A>C | GRCh37 |
| NC_000017.9:g.35075715A>C | NCBI36 |
| NG_008892.1:g.5591A>C , LRG_210:g.5591A>C | |
| NG_042278.1:g.2956A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.331A>C MANE Select | ENSP00000312624.2:p.Ile111Leu | |
| ENST00000309889.2:c.331A>C | ENSP00000312624.2:p.Ile111Leu | |
| ENST00000578283.1:c.259A>C | ENSP00000462787.1:p.Ile87Leu | |
| NM_003673.3:c.331A>C , LRG_210t1:c.331A>C | NP_003664.1:p.Ile111Leu | |
| NM_003673.4:c.331A>C MANE Select | NP_003664.1:p.Ile111Leu |