Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160242388T>G , CM000668.2:g.160242388T>G | GRCh38 |
| NC_000006.11:g.160663420T>G , CM000668.1:g.160663420T>G | GRCh37 |
| NC_000006.10:g.160583410T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.1294A>C MANE Select | ENSP00000355920.3:p.Lys432Gln | |
| ENST00000366953.7:c.1294A>C | ENSP00000355920.3:p.Lys432Gln | |
| ENST00000486916.5:n.333A>C | ||
| ENST00000491092.1:n.1191A>C | ||
| NM_003058.3:c.1294A>C | NP_003049.2:p.Lys432Gln | |
| NM_003058.4:c.1294A>C MANE Select | NP_003049.2:p.Lys432Gln |