Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10607568A>C , CM000670.2:g.10607568A>C | GRCh38 |
| NC_000008.10:g.10465078A>C , CM000670.1:g.10465078A>C | GRCh37 |
| NC_000008.9:g.10502488A>C | NCBI36 |
| NG_028035.1:g.52540T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178857.6:c.6530T>G MANE Select | NP_849188.4:p.Leu2177Ter |
| ENST00000382483.4:c.6530T>G MANE Select | ENSP00000371923.3:p.Leu2177Ter |
| NM_178857.5:c.6530T>G | NP_849188.4:p.Leu2177Ter |
| ENST00000382483.3:c.6530T>G | ENSP00000371923.3:p.Leu2177Ter |