Linked Data
ClinVar Variation Id:
188980
dbSNP Id:
rs761620701
ExAC:
22:50512644 C / T
gnomAD v2:
22-50512644-C-T
gnomAD v3:
22-50074215-C-T
gnomAD v4:
22-50074215-C-T
COSMIC:
COSM1484329
PubMed:
PMID:16652334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50074215C>T , CM000684.2:g.50074215C>T | GRCh38 |
| NC_000022.10:g.50512644C>T , CM000684.1:g.50512644C>T | GRCh37 |
| NC_000022.9:g.48854771C>T | NCBI36 |
| NG_009162.1:g.16715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311597.10:c.714+1G>A MANE Select | ENSP00000310375.6:n.714+1G>A | |
| ENST00000311597.9:c.714+1G>A | ENSP00000310375.5:n.714+1G>A | |
| ENST00000395876.6:c.714+1G>A | ENSP00000379216.2:n.714+1G>A | |
| ENST00000442311.1:c.624+1G>A | ENSP00000401385.1:n.624+1G>A | |
| ENST00000470008.1:n.194+1G>A | ||
| NM_015166.3:c.714+1G>A | NP_055981.1:n.714+1G>A | |
| NM_139202.2:c.714+1G>A | NP_631941.1:n.714+1G>A | |
| XM_011530678.1:c.714+1G>A | XP_011528980.1:n.714+1G>A | |
| XR_430476.2:n.1109+1G>A | ||
| XM_011530678.2:c.714+1G>A | XP_011528980.1:n.714+1G>A | |
| XM_017028671.1:c.714+1G>A | XP_016884160.1:n.714+1G>A | |
| XR_001755180.2:n.1219+1G>A | ||
| XR_001755181.2:n.987+1G>A | ||
| NM_001376472.1:c.714+1G>A | NP_001363401.1:n.714+1G>A | |
| NM_001376473.1:c.714+1G>A | NP_001363402.1:n.714+1G>A | |
| NM_001376474.1:c.714+1G>A | NP_001363403.1:n.714+1G>A | |
| NM_001376475.1:c.714+1G>A | NP_001363404.1:n.714+1G>A | |
| NM_001376476.1:c.714+1G>A | NP_001363405.1:n.714+1G>A | |
| NM_001376477.1:c.714+1G>A | NP_001363406.1:n.714+1G>A | |
| NM_001376478.1:c.714+1G>A | NP_001363407.1:n.714+1G>A | |
| NM_001376479.1:c.714+1G>A | NP_001363408.1:n.714+1G>A | |
| NM_001376480.1:c.624+1G>A | NP_001363409.1:n.624+1G>A | |
| NM_001376481.1:c.612+1G>A | NP_001363410.1:n.612+1G>A | |
| NM_001376482.1:c.558+1G>A | NP_001363411.1:n.558+1G>A | |
| NM_001376483.1:c.558+1G>A | NP_001363412.1:n.558+1G>A | |
| NM_001376484.1:c.477+1G>A | NP_001363413.1:n.477+1G>A | |
| NM_015166.4:c.714+1G>A MANE Select | NP_055981.1:n.714+1G>A | |
| NM_139202.3:c.714+1G>A | NP_631941.1:n.714+1G>A | |
| NR_164811.1:n.1061+1G>A | ||
| NR_164812.1:n.845+1G>A | ||
| NR_164813.1:n.1238+1G>A |