Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063582T>C , CM000663.2:g.55063582T>C | GRCh38 |
| NC_000001.10:g.55529255T>C , CM000663.1:g.55529255T>C | GRCh37 |
| NC_000001.9:g.55301843T>C | NCBI36 |
| NG_009061.1:g.29036T>C , LRG_275:g.29036T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*417T>C | ENSP00000501161.2:n.*417T>C | |
| ENST00000710286.1:c.2434T>C | ENSP00000518176.1:p.Ter812Arg | |
| ENST00000673903.1:c.1702T>C | ENSP00000501257.1:p.Ter568Arg | |
| ENST00000302118.5:c.2077T>C MANE Select | ENSP00000303208.5:p.Ter693Arg | |
| ENST00000490692.1:n.2623T>C | ||
| NM_174936.3:c.2077T>C , LRG_275t1:c.2077T>C | NP_777596.2:p.Ter693Arg | |
| NR_110451.1:n.1684T>C | ||
| XM_011541193.1:c.1198T>C | XP_011539495.1:p.Ter400Arg | |
| NM_174936.4:c.2077T>C MANE Select | NP_777596.2:p.Ter693Arg | |
| NR_110451.2:n.1684T>C |