Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154156369A>C , CM000685.2:g.154156369A>C | GRCh38 |
| NC_000023.10:g.153421844A>C , CM000685.1:g.153421844A>C | GRCh37 |
| NC_000023.9:g.153075038A>C | NCBI36 |
| NG_009105.2:g.17119A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020061.6:c.820A>C MANE Select | NP_064445.2:p.Ile274Leu |
| ENST00000369951.9:c.820A>C MANE Select | ENSP00000358967.4:p.Ile274Leu |
| NM_020061.5:c.820A>C | NP_064445.2:p.Ile274Leu |
| ENST00000369951.8:c.820A>C | ENSP00000358967.4:p.Ile274Leu |
| ENST00000442922.1:c.384+25A>C | ENSP00000402493.1:n.384+25A>C |
| ENST00000463296.1:n.664A>C |