dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63953532G>C , CM000680.2:g.63953532G>C | GRCh38 |
| NC_000018.9:g.61620766G>C , CM000680.1:g.61620766G>C | GRCh37 |
| NC_000018.8:g.59771746G>C | NCBI36 |
| NG_027807.1:g.9179G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408945.5:c.72+5G>C MANE Select | ENSP00000386207.3:n.72+5G>C | |
| ENST00000408945.4:c.72+5G>C | ENSP00000386207.3:n.72+5G>C | |
| ENST00000481726.1:n.45-876G>C | ||
| NM_001123366.1:c.72+5G>C | NP_001116838.1:n.72+5G>C | |
| XM_011525930.1:c.72+5G>C | XP_011524232.1:n.72+5G>C | |
| XM_011525930.2:c.72+5G>C | XP_011524232.1:n.72+5G>C | |
| XM_017025710.1:c.72+5G>C | XP_016881199.1:n.72+5G>C | |
| NM_001123366.2:c.72+5G>C MANE Select | NP_001116838.1:n.72+5G>C |