Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659137T>C , CM000685.2:g.136659137T>C | GRCh38 |
| NC_000023.10:g.135741296T>C , CM000685.1:g.135741296T>C | GRCh37 |
| NC_000023.9:g.135568962T>C | NCBI36 |
| NG_007280.1:g.15961T>C , LRG_141:g.15961T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*126T>C | ENSP00000512122.1:n.*126T>C | |
| ENST00000695725.1:c.*63T>C | ENSP00000512123.1:n.*63T>C | |
| ENST00000695726.1:n.2476T>C | ||
| ENST00000695729.1:n.3311T>C | ||
| ENST00000370629.7:c.508T>C MANE Select | ENSP00000359663.2:p.Tyr170His | |
| ENST00000370628.2:c.445T>C | ENSP00000359662.2:p.Tyr149His | |
| ENST00000370629.6:c.508T>C | ENSP00000359663.2:p.Tyr170His | |
| NM_000074.2:c.508T>C , LRG_141t1:c.508T>C | NP_000065.1:p.Tyr170His | |
| NM_000074.3:c.508T>C MANE Select | NP_000065.1:p.Tyr170His |