Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154152987A>C , CM000685.2:g.154152987A>C | GRCh38 |
| NG_009105.2:g.13737A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020061.6:c.457A>C MANE Select | NP_064445.2:p.Met153Leu |
| ENST00000369951.9:c.457A>C MANE Select | ENSP00000358967.4:p.Met153Leu |
| NM_020061.5:c.457A>C | NP_064445.2:p.Met153Leu |
| ENST00000369951.8:c.457A>C | ENSP00000358967.4:p.Met153Leu |
| ENST00000442922.1:c.46A>C | ENSP00000402493.1:p.Met16Leu |
| ENST00000463296.1:n.467A>C |