Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216046516C>G , CM000663.2:g.216046516C>G | GRCh38 |
| NC_000001.10:g.216219858C>G , CM000663.1:g.216219858C>G | GRCh37 |
| NC_000001.9:g.214286481C>G | NCBI36 |
| NG_009497.1:g.381881G>C | |
| NG_009497.2:g.381933G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6240G>C MANE Select | ENSP00000305941.3:p.Lys2080Asn | |
| ENST00000674083.1:c.6240G>C | ENSP00000501296.1:p.Lys2080Asn | |
| ENST00000307340.7:c.6240G>C | ENSP00000305941.3:p.Lys2080Asn | |
| NM_206933.2:c.6240G>C | NP_996816.2:p.Lys2080Asn | |
| NM_206933.3:c.6240G>C | NP_996816.2:p.Lys2080Asn | |
| NM_206933.4:c.6240G>C MANE Select | NP_996816.3:p.Lys2080Asn |