Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71843744C>A , CM000670.2:g.71843744C>A | GRCh38 |
| NC_000008.10:g.72755979C>A , CM000670.1:g.72755979C>A | GRCh37 |
| NC_000008.9:g.72918533C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325509.5:c.435G>T (MSC) MANE Select | ENSP00000321445.4:p.Lys145Asn | |
| ENST00000325509.4:c.435G>T (MSC) | ENSP00000321445.4:p.Lys145Asn | |
| NM_005098.3:c.435G>T (MSC) | NP_005089.2:p.Lys145Asn | |
| NR_033652.1:n.582+40C>A (MSC-AS1) | ||
| NM_005098.4:c.435G>T (MSC) MANE Select | NP_005089.2:p.Lys145Asn |