Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172273A>C , CM000685.2:g.116172273A>C | GRCh38 |
| NC_000023.10:g.115303526A>C , CM000685.1:g.115303526A>C | GRCh37 |
| NC_000023.9:g.115217554A>C | NCBI36 |
| NG_016326.1:g.6569A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.-8A>C MANE Select | ENSP00000360973.4:n.-8A>C | |
| ENST00000680409.1:n.461A>C | ||
| ENST00000681852.1:c.-8A>C | ENSP00000505750.1:n.-8A>C | |
| ENST00000371906.4:c.-8A>C | ENSP00000360973.4:n.-8A>C | |
| NM_000686.4:c.-8A>C | NP_000677.2:n.-8A>C | |
| XM_011537533.1:c.-8A>C | XP_011535835.1:n.-8A>C | |
| NM_000686.5:c.-8A>C MANE Select | NP_000677.2:n.-8A>C | |
| NM_001385624.1:c.-8A>C | NP_001372553.1:n.-8A>C |