dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43995806G>C , CM000684.2:g.43995806G>C | GRCh38 |
| NC_000022.10:g.44391686G>C , CM000684.1:g.44391686G>C | GRCh37 |
| NC_000022.9:g.42723019G>C | NCBI36 |
| NG_029057.1:g.45426G>C | |
| NG_029743.1:g.1596G>C | |
| NG_029057.2:g.45426G>C | |
| NG_029743.2:g.1596G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.1365-532G>C MANE Select | ENSP00000345445.4:n.1365-532G>C | |
| ENST00000350028.4:c.1365-532G>C | ENSP00000345445.4:n.1365-532G>C | |
| ENST00000465768.1:n.79+5400G>C | ||
| ENST00000474323.5:n.2177-532G>C | ||
| ENST00000493621.1:n.100+316G>C | ||
| ENST00000494795.1:n.3057-532G>C | ||
| NM_015380.4:c.1365-532G>C | NP_056195.3:n.1365-532G>C | |
| NM_015380.5:c.1365-532G>C MANE Select | NP_056195.3:n.1365-532G>C |