Linked Data
dbSNP Id:
rs142716278
gnomAD v2:
16-77427595-G-A
gnomAD v3:
16-77393698-G-A
gnomAD v4:
16-77393698-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77393698G>A , CM000678.2:g.77393698G>A | GRCh38 |
| NC_000016.9:g.77427595G>A , CM000678.1:g.77427595G>A | GRCh37 |
| NC_000016.8:g.75985096G>A | NCBI36 |
| NG_031879.1:g.46417C>T | |
| NG_031879.2:g.46417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.496-25975C>T MANE Select | ENSP00000282849.5:n.496-25975C>T | |
| ENST00000282849.9:c.496-25975C>T | ENSP00000282849.5:n.496-25975C>T | |
| ENST00000449265.2:c.496-25975C>T | ENSP00000392540.2:n.496-25975C>T | |
| ENST00000562345.1:c.294-26029C>T | ||
| ENST00000564369.1:n.422-25975C>T | ||
| ENST00000567121.5:n.353-25975C>T | ||
| ENST00000567914.1:n.340-25975C>T | ||
| ENST00000569309.1:n.453-14719C>T | ||
| NM_199355.2:c.496-25975C>T | NP_955387.1:n.496-25975C>T | |
| XM_011522923.1:c.-25-25975C>T | XP_011521225.1:n.-25-25975C>T | |
| XM_011522924.1:c.-25-25975C>T | XP_011521226.1:n.-25-25975C>T | |
| NM_001326358.1:c.-25-25975C>T | NP_001313287.1:n.-25-25975C>T | |
| NM_199355.3:c.496-25975C>T | NP_955387.1:n.496-25975C>T | |
| XM_011522924.2:c.-25-25975C>T | XP_011521226.1:n.-25-25975C>T | |
| XM_017022988.2:c.-585-25975C>T | XP_016878477.1:n.-585-25975C>T | |
| XM_017022989.1:c.-581-25975C>T | XP_016878478.1:n.-581-25975C>T | |
| NM_199355.4:c.496-25975C>T MANE Select | NP_955387.1:n.496-25975C>T | |
| NM_001326358.2:c.-25-25975C>T | NP_001313287.1:n.-25-25975C>T |