Linked Data
ClinVar Variation Id:
370408
dbSNP Id:
rs1057516465
gnomAD v2:
22-50502549-G-A
gnomAD v3:
22-50064120-G-A
gnomAD v4:
22-50064120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50064120G>A , CM000684.2:g.50064120G>A | GRCh38 |
| NC_000022.10:g.50502549G>A , CM000684.1:g.50502549G>A | GRCh37 |
| NC_000022.9:g.48844676G>A | NCBI36 |
| NG_009162.1:g.26810C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311597.10:c.973C>T MANE Select | ENSP00000310375.6:p.Gln325Ter | |
| ENST00000311597.9:c.973C>T | ENSP00000310375.5:p.Gln325Ter | |
| ENST00000395876.6:c.973C>T | ENSP00000379216.2:p.Gln325Ter | |
| ENST00000483836.1:n.330C>T | ||
| NM_015166.3:c.973C>T | NP_055981.1:p.Gln325Ter | |
| NM_139202.2:c.973C>T | NP_631941.1:p.Gln325Ter | |
| XM_011530678.1:c.895-2463C>T | XP_011528980.1:n.895-2463C>T | |
| XR_430476.2:n.1368C>T | ||
| XM_011530678.2:c.895-2463C>T | XP_011528980.1:n.895-2463C>T | |
| XM_017028671.1:c.973C>T | XP_016884160.1:p.Gln325Ter | |
| XR_001755180.2:n.1478C>T | ||
| XR_001755181.2:n.1246C>T | ||
| NM_001376472.1:c.973C>T | NP_001363401.1:p.Gln325Ter | |
| NM_001376473.1:c.973C>T | NP_001363402.1:p.Gln325Ter | |
| NM_001376474.1:c.973C>T | NP_001363403.1:p.Gln325Ter | |
| NM_001376475.1:c.973C>T | NP_001363404.1:p.Gln325Ter | |
| NM_001376476.1:c.973C>T | NP_001363405.1:p.Gln325Ter | |
| NM_001376477.1:c.973C>T | NP_001363406.1:p.Gln325Ter | |
| NM_001376478.1:c.973C>T | NP_001363407.1:p.Gln325Ter | |
| NM_001376479.1:c.916C>T | NP_001363408.1:p.Gln306Ter | |
| NM_001376480.1:c.883C>T | NP_001363409.1:p.Gln295Ter | |
| NM_001376481.1:c.871C>T | NP_001363410.1:p.Gln291Ter | |
| NM_001376482.1:c.817C>T | NP_001363411.1:p.Gln273Ter | |
| NM_001376483.1:c.817C>T | NP_001363412.1:p.Gln273Ter | |
| NM_001376484.1:c.736C>T | NP_001363413.1:p.Gln246Ter | |
| NM_015166.4:c.973C>T MANE Select | NP_055981.1:p.Gln325Ter | |
| NM_139202.3:c.973C>T | NP_631941.1:p.Gln325Ter | |
| NR_164811.1:n.1320C>T | ||
| NR_164812.1:n.1104C>T | ||
| NR_164813.1:n.1497C>T |