Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116173577A>C , CM000685.2:g.116173577A>C | GRCh38 |
| NC_000023.10:g.115304830A>C , CM000685.1:g.115304830A>C | GRCh37 |
| NC_000023.9:g.115218858A>C | NCBI36 |
| NG_016326.1:g.7873A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000686.5:c.*205A>C MANE Select | NP_000677.2:n.*205A>C |
| ENST00000371906.5:c.*205A>C MANE Select | ENSP00000360973.4:n.*205A>C |
| NM_000686.4:c.*205A>C | NP_000677.2:n.*205A>C |
| NM_001385624.1:c.*205A>C | NP_001372553.1:n.*205A>C |
| ENST00000371906.4:c.*205A>C | ENSP00000360973.4:n.*205A>C |
| XM_011537533.1:c.*205A>C | XP_011535835.1:n.*205A>C |