Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71966484A>C , CM000674.2:g.71966484A>C | GRCh38 |
| NC_000012.11:g.72360264A>C , CM000674.1:g.72360264A>C | GRCh37 |
| NC_000012.10:g.70646531A>C | NCBI36 |
| NG_008279.1:g.32639A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.609-6035A>C MANE Select | NP_775489.2:n.609-6035A>C |
| ENST00000333850.4:c.609-6035A>C MANE Select | ENSP00000329093.3:n.609-6035A>C |
| NM_173353.3:c.609-6035A>C | NP_775489.2:n.609-6035A>C |
| ENST00000333850.3:c.609-6035A>C | ENSP00000329093.3:n.609-6035A>C |
| XM_011537899.1:c.15-6035A>C | XP_011536201.1:n.15-6035A>C |