Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7502683A>C , CM000679.2:g.7502683A>C | GRCh38 |
| NC_000017.10:g.7406002A>C , CM000679.1:g.7406002A>C | GRCh37 |
| NC_000017.9:g.7346726A>C | NCBI36 |
| NG_027747.1:g.23305A>C | |
| NG_027747.2:g.23305A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.3137A>C | ||
| ENST00000674977.2:c.2738A>C | ENSP00000502190.2:p.Asn913Thr | |
| ENST00000576114.1:n.204A>C | ||
| ENST00000617998.4:c.2738A>C | ENSP00000480158.1:p.Asn913Thr | |
| ENST00000621442.4:c.2738A>C | ENSP00000483957.1:p.Asn913Thr | |
| NM_000937.4:c.2738A>C | NP_000928.1:p.Asn913Thr | |
| NM_000937.5:c.2738A>C MANE Select | NP_000928.1:p.Asn913Thr |