Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960901G>C , CM000670.2:g.19960901G>C | GRCh38 |
| NC_000008.10:g.19818412G>C , CM000670.1:g.19818412G>C | GRCh37 |
| NC_000008.9:g.19862692G>C | NCBI36 |
| NG_008855.1:g.26831G>C | |
| NG_008855.2:g.64185G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1140G>C MANE Select | ENSP00000497642.1:p.Leu380= | |
| ENST00000650478.1:c.80G>C | ENSP00000497560.1:p.Gly27Ala | |
| ENST00000311322.8:c.1140G>C | ENSP00000309757.6:p.Leu380= | |
| NM_000237.2:c.1140G>C | NP_000228.1:p.Leu380= | |
| NM_000237.3:c.1140G>C MANE Select | NP_000228.1:p.Leu380= |