Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659327C= , CM000685.2:g.136659327C= | GRCh38 |
| NC_000023.10:g.135741486C= , CM000685.1:g.135741486C= | GRCh37 |
| NC_000023.9:g.135569152C= | NCBI36 |
| NG_007280.1:g.16151C= , LRG_141:g.16151C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*316C= | ENSP00000512122.1:n.*316C= | |
| ENST00000695725.1:c.*253C= | ENSP00000512123.1:n.*253C= | |
| ENST00000695726.1:n.2666C= | ||
| ENST00000695729.1:n.3501C= | ||
| ENST00000370629.7:c.698C= MANE Select | ENSP00000359663.2:p.Pro233= | |
| ENST00000370628.2:c.635C= | ENSP00000359662.2:p.Pro212= | |
| ENST00000370629.6:c.698C= | ENSP00000359663.2:p.Pro233= | |
| NM_000074.2:c.698C= , LRG_141t1:c.698C= | NP_000065.1:p.Pro233= | |
| NM_000074.3:c.698C= MANE Select | NP_000065.1:p.Pro233= |