Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063628G>C , CM000663.2:g.55063628G>C | GRCh38 |
| NC_000001.10:g.55529301G>C , CM000663.1:g.55529301G>C | GRCh37 |
| NC_000001.9:g.55301889G>C | NCBI36 |
| NG_009061.1:g.29082G>C , LRG_275:g.29082G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*463G>C | ENSP00000501161.2:n.*463G>C | |
| ENST00000710286.1:c.*44G>C | ENSP00000518176.1:n.*44G>C | |
| ENST00000673903.1:c.*44G>C | ENSP00000501257.1:n.*44G>C | |
| ENST00000302118.5:c.*44G>C MANE Select | ENSP00000303208.5:n.*44G>C | |
| ENST00000490692.1:n.2669G>C | ||
| NM_174936.3:c.*44G>C , LRG_275t1:c.*44G>C | NP_777596.2:n.*44G>C | |
| NR_110451.1:n.1730G>C | ||
| XM_011541193.1:c.*44G>C | XP_011539495.1:n.*44G>C | |
| NM_174936.4:c.*44G>C MANE Select | NP_777596.2:n.*44G>C | |
| NR_110451.2:n.1730G>C |