dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116564853G>C , CM000674.2:g.116564853G>C | GRCh38 |
| NC_000012.11:g.117002658G>C , CM000674.1:g.117002658G>C | GRCh37 |
| NC_000012.10:g.115487041G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556529.4:c.-102+5420G>C MANE Select | ENSP00000450524.1:n.-102+5420G>C | |
| ENST00000556529.2:c.-102+5420G>C | ENSP00000450524.1:n.-102+5420G>C | |
| NM_001085481.1:c.-102+5420G>C | NP_001078950.1:n.-102+5420G>C | |
| XM_011538652.1:c.220+5420G>C | XP_011536954.1:n.220+5420G>C | |
| NM_001085481.2:c.-102+5420G>C | NP_001078950.1:n.-102+5420G>C | |
| NM_001085481.3:c.-102+5420G>C MANE Select | NP_001078950.1:n.-102+5420G>C |