Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323197G>T , CM000667.2:g.159323197G>T | GRCh38 |
| NC_000005.9:g.158750205G>T , CM000667.1:g.158750205G>T | GRCh37 |
| NC_000005.8:g.158682783G>T | NCBI36 |
| NG_009618.1:g.12277C>A , LRG_71:g.12277C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2677C>A | ENSP00000512849.1:n.-148-2677C>A | |
| ENST00000696751.1:c.221C>A | ENSP00000512850.1:p.Thr74Asn | |
| ENST00000231228.3:c.221C>A MANE Select | ENSP00000231228.2:p.Thr74Asn | |
| ENST00000231228.2:c.221C>A | ENSP00000231228.2:p.Thr74Asn | |
| NM_002187.2:c.221C>A , LRG_71t1:c.221C>A | NP_002178.2:p.Thr74Asn | |
| XR_001742945.1:n.148-2337G>T | ||
| NM_002187.3:c.221C>A MANE Select | NP_002178.2:p.Thr74Asn |