Linked Data
ClinVar Variation Id:
342104
dbSNP Id:
rs774940679
ExAC:
22:50506997 C / T
gnomAD v2:
22-50506997-C-T
gnomAD v3:
22-50068568-C-T
gnomAD v4:
22-50068568-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50068568C>T , CM000684.2:g.50068568C>T | GRCh38 |
| NC_000022.10:g.50506997C>T , CM000684.1:g.50506997C>T | GRCh37 |
| NC_000022.9:g.48849124C>T | NCBI36 |
| NG_009162.1:g.22362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311597.10:c.772-13G>A MANE Select | ENSP00000310375.6:n.772-13G>A | |
| ENST00000311597.9:c.772-13G>A | ENSP00000310375.5:n.772-13G>A | |
| ENST00000395876.6:c.772-13G>A | ENSP00000379216.2:n.772-13G>A | |
| ENST00000483836.1:n.129-13G>A | ||
| NM_015166.3:c.772-13G>A | NP_055981.1:n.772-13G>A | |
| NM_139202.2:c.772-13G>A | NP_631941.1:n.772-13G>A | |
| XM_011530678.1:c.772-13G>A | XP_011528980.1:n.772-13G>A | |
| XR_430476.2:n.1167-13G>A | ||
| XM_011530678.2:c.772-13G>A | XP_011528980.1:n.772-13G>A | |
| XM_017028671.1:c.772-13G>A | XP_016884160.1:n.772-13G>A | |
| XR_001755180.2:n.1277-13G>A | ||
| XR_001755181.2:n.1045-13G>A | ||
| NM_001376472.1:c.772-13G>A | NP_001363401.1:n.772-13G>A | |
| NM_001376473.1:c.772-13G>A | NP_001363402.1:n.772-13G>A | |
| NM_001376474.1:c.772-13G>A | NP_001363403.1:n.772-13G>A | |
| NM_001376475.1:c.772-13G>A | NP_001363404.1:n.772-13G>A | |
| NM_001376476.1:c.772-13G>A | NP_001363405.1:n.772-13G>A | |
| NM_001376477.1:c.772-13G>A | NP_001363406.1:n.772-13G>A | |
| NM_001376478.1:c.772-13G>A | NP_001363407.1:n.772-13G>A | |
| NM_001376479.1:c.715-13G>A | NP_001363408.1:n.715-13G>A | |
| NM_001376480.1:c.682-13G>A | NP_001363409.1:n.682-13G>A | |
| NM_001376481.1:c.670-13G>A | NP_001363410.1:n.670-13G>A | |
| NM_001376482.1:c.616-13G>A | NP_001363411.1:n.616-13G>A | |
| NM_001376483.1:c.616-13G>A | NP_001363412.1:n.616-13G>A | |
| NM_001376484.1:c.535-13G>A | NP_001363413.1:n.535-13G>A | |
| NM_015166.4:c.772-13G>A MANE Select | NP_055981.1:n.772-13G>A | |
| NM_139202.3:c.772-13G>A | NP_631941.1:n.772-13G>A | |
| NR_164811.1:n.1119-13G>A | ||
| NR_164812.1:n.903-13G>A | ||
| NR_164813.1:n.1296-13G>A |