dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122046634G>C , CM000674.2:g.122046634G>C | GRCh38 |
| NC_000012.11:g.122484540G>C , CM000674.1:g.122484540G>C | GRCh37 |
| NC_000012.10:g.120968923G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261822.5:c.439+2581G>C MANE Select | ENSP00000261822.5:n.439+2581G>C | |
| ENST00000261822.4:c.439+2581G>C | ENSP00000261822.4:n.439+2581G>C | |
| ENST00000538010.5:c.439+2581G>C | ENSP00000445868.1:n.439+2581G>C | |
| NM_001024808.2:c.439+2581G>C | NP_001019979.1:n.439+2581G>C | |
| NM_020993.4:c.439+2581G>C | NP_066273.1:n.439+2581G>C | |
| NM_001024808.3:c.439+2581G>C MANE Select | NP_001019979.1:n.439+2581G>C | |
| NM_020993.5:c.439+2581G>C | NP_066273.1:n.439+2581G>C |