Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176190106C>A , CM000664.2:g.176190106C>A | GRCh38 |
| NC_000002.11:g.177054834C>A , CM000664.1:g.177054834C>A | GRCh37 |
| NC_000002.10:g.176763080C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024501.3:c.951C>A MANE Select | NP_078777.1:p.Asn317Lys |
| ENST00000331462.6:c.951C>A MANE Select | ENSP00000328598.4:p.Asn317Lys |
| NM_024501.2:c.951C>A | NP_078777.1:p.Asn317Lys |
| ENST00000331462.5:c.951C>A | ENSP00000328598.4:p.Asn317Lys |