Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063575G>C , CM000663.2:g.55063575G>C | GRCh38 |
| NC_000001.10:g.55529248G>C , CM000663.1:g.55529248G>C | GRCh37 |
| NC_000001.9:g.55301836G>C | NCBI36 |
| NG_009061.1:g.29029G>C , LRG_275:g.29029G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*410G>C | ENSP00000501161.2:n.*410G>C | |
| ENST00000710286.1:c.2427G>C | ENSP00000518176.1:p.Glu809Asp | |
| ENST00000673903.1:c.1695G>C | ENSP00000501257.1:p.Glu565Asp | |
| ENST00000302118.5:c.2070G>C MANE Select | ENSP00000303208.5:p.Glu690Asp | |
| ENST00000490692.1:n.2616G>C | ||
| NM_174936.3:c.2070G>C , LRG_275t1:c.2070G>C | NP_777596.2:p.Glu690Asp | |
| NR_110451.1:n.1677G>C | ||
| XM_011541193.1:c.1191G>C | XP_011539495.1:p.Glu397Asp | |
| NM_174936.4:c.2070G>C MANE Select | NP_777596.2:p.Glu690Asp | |
| NR_110451.2:n.1677G>C |