Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622780G>T , CM000670.2:g.10622780G>T | GRCh38 |
| NC_000008.10:g.10480290G>T , CM000670.1:g.10480290G>T | GRCh37 |
| NC_000008.9:g.10517700G>T | NCBI36 |
| NG_028035.1:g.37328C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.422C>A MANE Select | ENSP00000371923.3:p.Thr141Asn | |
| ENST00000329335.3:n.672C>A | ||
| ENST00000382483.3:c.422C>A | ENSP00000371923.3:p.Thr141Asn | |
| NM_178857.5:c.422C>A | NP_849188.4:p.Thr141Asn | |
| NM_178857.6:c.422C>A MANE Select | NP_849188.4:p.Thr141Asn |