Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7502617A>C , CM000679.2:g.7502617A>C | GRCh38 |
| NC_000017.10:g.7405936A>C , CM000679.1:g.7405936A>C | GRCh37 |
| NC_000017.9:g.7346660A>C | NCBI36 |
| NG_027747.1:g.23239A>C | |
| NG_027747.2:g.23239A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.3071A>C | ||
| ENST00000674977.2:c.2672A>C | ENSP00000502190.2:p.Tyr891Ser | |
| ENST00000576114.1:n.138A>C | ||
| ENST00000617998.4:c.2672A>C | ENSP00000480158.1:p.Tyr891Ser | |
| ENST00000621442.4:c.2672A>C | ENSP00000483957.1:p.Tyr891Ser | |
| NM_000937.4:c.2672A>C | NP_000928.1:p.Tyr891Ser | |
| NM_000937.5:c.2672A>C MANE Select | NP_000928.1:p.Tyr891Ser |