Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55005020A>C , CM000663.2:g.55005020A>C | GRCh38 |
| NC_000001.10:g.55470693A>C , CM000663.1:g.55470693A>C | GRCh37 |
| NC_000001.9:g.55243281A>C | NCBI36 |
| NG_008965.1:g.11077A>C | |
| NG_008965.2:g.11088A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.178-2A>C MANE Select | ENSP00000498282.1:n.178-2A>C | |
| ENST00000371265.4:c.178-2A>C | ENSP00000360312.4:n.178-2A>C | |
| NM_057176.2:c.178-2A>C | NP_476517.1:n.178-2A>C | |
| XM_006710883.2:c.-54-2A>C | XP_006710946.1:n.-54-2A>C | |
| NM_057176.3:c.178-2A>C MANE Select | NP_476517.1:n.178-2A>C |