Linked Data
dbSNP Id:
rs16945612
gnomAD v2:
16-77428972-T-C
gnomAD v3:
16-77395075-T-C
gnomAD v4:
16-77395075-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77395075T>C , CM000678.2:g.77395075T>C | GRCh38 |
| NC_000016.9:g.77428972T>C , CM000678.1:g.77428972T>C | GRCh37 |
| NC_000016.8:g.75986473T>C | NCBI36 |
| NG_031879.1:g.45040A>G | |
| NG_031879.2:g.45040A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282849.10:c.496-27352A>G MANE Select | ENSP00000282849.5:n.496-27352A>G | |
| ENST00000282849.9:c.496-27352A>G | ENSP00000282849.5:n.496-27352A>G | |
| ENST00000449265.2:c.496-27352A>G | ENSP00000392540.2:n.496-27352A>G | |
| ENST00000562345.1:c.294-27406A>G | ||
| ENST00000564369.1:n.422-27352A>G | ||
| ENST00000567121.5:n.353-27352A>G | ||
| ENST00000567914.1:n.340-27352A>G | ||
| ENST00000569309.1:n.453-16096A>G | ||
| NM_199355.2:c.496-27352A>G | NP_955387.1:n.496-27352A>G | |
| XM_011522923.1:c.-25-27352A>G | XP_011521225.1:n.-25-27352A>G | |
| XM_011522924.1:c.-25-27352A>G | XP_011521226.1:n.-25-27352A>G | |
| NM_001326358.1:c.-25-27352A>G | NP_001313287.1:n.-25-27352A>G | |
| NM_199355.3:c.496-27352A>G | NP_955387.1:n.496-27352A>G | |
| XM_011522924.2:c.-25-27352A>G | XP_011521226.1:n.-25-27352A>G | |
| XM_017022988.2:c.-585-27352A>G | XP_016878477.1:n.-585-27352A>G | |
| XM_017022989.1:c.-581-27352A>G | XP_016878478.1:n.-581-27352A>G | |
| NM_199355.4:c.496-27352A>G MANE Select | NP_955387.1:n.496-27352A>G | |
| NM_001326358.2:c.-25-27352A>G | NP_001313287.1:n.-25-27352A>G |