Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063553A>C , CM000663.2:g.55063553A>C | GRCh38 |
| NC_000001.10:g.55529226A>C , CM000663.1:g.55529226A>C | GRCh37 |
| NC_000001.9:g.55301814A>C | NCBI36 |
| NG_009061.1:g.29007A>C , LRG_275:g.29007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*388A>C | ENSP00000501161.2:n.*388A>C | |
| ENST00000710286.1:c.2405A>C | ENSP00000518176.1:p.His802Pro | |
| ENST00000673903.1:c.1673A>C | ENSP00000501257.1:p.His558Pro | |
| ENST00000302118.5:c.2048A>C MANE Select | ENSP00000303208.5:p.His683Pro | |
| ENST00000490692.1:n.2594A>C | ||
| NM_174936.3:c.2048A>C , LRG_275t1:c.2048A>C | NP_777596.2:p.His683Pro | |
| NR_110451.1:n.1655A>C | ||
| XM_011541193.1:c.1169A>C | XP_011539495.1:p.His390Pro | |
| NM_174936.4:c.2048A>C MANE Select | NP_777596.2:p.His683Pro | |
| NR_110451.2:n.1655A>C |