Linked Data
dbSNP Id:
rs1329984794
gnomAD v2:
16-16110264-G-A
gnomAD v3:
16-16016407-G-A
gnomAD v4:
16-16016407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16016407G>A , CM000678.2:g.16016407G>A | GRCh38 |
| NC_000016.9:g.16110264G>A , CM000678.1:g.16110264G>A | GRCh37 |
| NC_000016.8:g.16017765G>A | NCBI36 |
| NG_028268.1:g.71831G>A | |
| NG_028268.2:g.71831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.490-89G>A | ENSP00000382340.4:n.490-89G>A | |
| ENST00000399410.8:c.490-89G>A MANE Select | ENSP00000382342.3:n.490-89G>A | |
| ENST00000572882.3:c.490-89G>A | ENSP00000461615.2:n.490-89G>A | |
| ENST00000574224.2:n.565-89G>A | ||
| ENST00000677164.1:c.489+1779G>A | ENSP00000502873.1:n.489+1779G>A | |
| ENST00000678422.1:c.490-89G>A | ENSP00000503954.1:n.490-89G>A | |
| ENST00000679043.1:n.442-89G>A | ||
| ENST00000399408.6:c.-489-89G>A | ENSP00000382340.3:n.-489-89G>A | |
| ENST00000399410.7:c.490-89G>A | ENSP00000382342.3:n.490-89G>A | |
| ENST00000572882.2:c.185-89G>A | ||
| ENST00000574224.1:n.90-89G>A | ||
| NM_004996.3:c.490-89G>A | NP_004987.2:n.490-89G>A | |
| XM_011522497.1:c.466-89G>A | XP_011520799.1:n.466-89G>A | |
| XM_011522498.1:c.544-89G>A | XP_011520800.1:n.544-89G>A | |
| XM_011522498.2:c.544-89G>A | XP_011520800.1:n.544-89G>A | |
| XM_017023237.1:c.544-89G>A | XP_016878726.1:n.544-89G>A | |
| XM_017023238.1:c.543+1779G>A | XP_016878727.1:n.543+1779G>A | |
| XM_017023239.1:c.406-89G>A | XP_016878728.1:n.406-89G>A | |
| XM_017023240.1:c.544-89G>A | XP_016878729.1:n.544-89G>A | |
| XM_017023241.1:c.405+6506G>A | XP_016878730.1:n.405+6506G>A | |
| XM_017023242.1:c.544-89G>A | XP_016878731.1:n.544-89G>A | |
| XM_017023243.2:c.544-89G>A | XP_016878732.1:n.544-89G>A | |
| NM_004996.4:c.490-89G>A MANE Select | NP_004987.2:n.490-89G>A |