Linked Data
ClinVar Variation Id:
714412
ClinVar RCV Id:
RCV000886715
dbSNP Id:
rs139995248
ExAC:
11:73849880 C / T
gnomAD v2:
11-73849880-C-T
gnomAD v3:
11-74138835-C-T
gnomAD v4:
11-74138835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74138835C>T , CM000673.2:g.74138835C>T | GRCh38 |
| NC_000011.9:g.73849880C>T , CM000673.1:g.73849880C>T | GRCh37 |
| NC_000011.8:g.73527528C>T | NCBI36 |
| NG_041791.1:g.37185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334126.12:c.840G>A MANE Select | ENSP00000334379.7:p.Gln280= | |
| ENST00000414160.7:c.840G>A | ENSP00000388750.3:p.Gln280= | |
| ENST00000442398.7:c.840G>A | ENSP00000404577.3:p.Gln280= | |
| ENST00000538361.2:c.840G>A | ENSP00000441742.2:p.Gln280= | |
| ENST00000539061.6:c.840G>A | ENSP00000445933.2:p.Gln280= | |
| ENST00000679415.1:c.*292G>A | ENSP00000505672.1:n.*292G>A | |
| ENST00000679906.1:c.840G>A | ENSP00000505021.1:p.Gln280= | |
| ENST00000680173.1:n.758G>A | ||
| ENST00000680231.1:c.840G>A | ENSP00000505413.1:p.Gln280= | |
| ENST00000680306.1:n.911G>A | ||
| ENST00000680645.1:c.840G>A | ENSP00000506347.1:p.Gln280= | |
| ENST00000680665.1:c.840G>A | ENSP00000505527.1:p.Gln280= | |
| ENST00000680718.1:c.840G>A | ENSP00000505340.1:p.Gln280= | |
| ENST00000680839.1:c.*292G>A | ENSP00000506002.1:n.*292G>A | |
| ENST00000681000.1:n.1109G>A | ||
| ENST00000681143.1:c.840G>A | ENSP00000505970.1:p.Gln280= | |
| ENST00000681291.1:c.*292G>A | ENSP00000505182.1:n.*292G>A | |
| ENST00000681310.1:c.840G>A | ENSP00000506236.1:p.Gln280= | |
| ENST00000681385.1:c.*292G>A | ENSP00000505069.1:n.*292G>A | |
| ENST00000681609.1:c.840G>A | ENSP00000505133.1:p.Gln280= | |
| ENST00000681811.1:c.840G>A | ENSP00000506315.1:p.Gln280= | |
| ENST00000681829.1:c.840G>A | ENSP00000505375.1:p.Gln280= | |
| ENST00000681924.1:c.840G>A | ENSP00000505101.1:p.Gln280= | |
| ENST00000313663.11:c.840G>A | ENSP00000323339.7:p.Gln280= | |
| ENST00000334126.11:c.840G>A | ENSP00000334379.7:p.Gln280= | |
| ENST00000415191.6:n.1005G>A | ||
| ENST00000539061.5:c.840G>A | ENSP00000445933.1:p.Gln280= | |
| NM_001286577.1:c.840G>A | NP_001273506.1:p.Gln280= | |
| NM_015531.5:c.840G>A | NP_056346.3:p.Gln280= | |
| XM_005273893.3:c.840G>A | XP_005273950.1:p.Gln280= | |
| XM_005273896.3:c.291G>A | XP_005273953.1:p.Gln97= | |
| XM_011544903.1:c.870G>A | XP_011543205.1:p.Gln290= | |
| XM_011544904.1:c.870G>A | XP_011543206.1:p.Gln290= | |
| XM_011544905.1:c.870G>A | XP_011543207.1:p.Gln290= | |
| XM_011544907.1:c.870G>A | XP_011543209.1:p.Gln290= | |
| XR_949869.1:n.966G>A | ||
| XR_949870.1:n.966G>A | ||
| XR_949871.1:n.966G>A | ||
| XR_949872.1:n.966G>A | ||
| XR_949874.1:n.966G>A | ||
| XM_017017510.1:c.870G>A | XP_016872999.1:p.Gln290= | |
| XM_017017511.2:c.291G>A | XP_016873000.1:p.Gln97= | |
| XM_017017512.1:c.-552G>A | XP_016873001.1:n.-552G>A | |
| XM_017017514.1:c.870G>A | XP_016873003.1:p.Gln290= | |
| XR_001747826.1:n.966G>A | ||
| XR_001747827.1:n.966G>A | ||
| XR_001747828.2:n.966G>A | ||
| NM_015531.6:c.840G>A | NP_056346.3:p.Gln280= | |
| NM_001286577.2:c.840G>A MANE Select | NP_001273506.1:p.Gln280= |