Linked Data
ClinVar Variation Id:
43321
dbSNP Id:
rs397516328
ExAC:
11:76922354 G / A
gnomAD v2:
11-76922354-G-A
gnomAD v3:
11-77211309-G-A
gnomAD v4:
11-77211309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211309G>A , CM000673.2:g.77211309G>A | GRCh38 |
| NC_000011.9:g.76922354G>A , CM000673.1:g.76922354G>A | GRCh37 |
| NC_000011.8:g.76600002G>A | NCBI36 |
| NG_009086.1:g.88045G>A | |
| NG_009086.2:g.88064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6209G>A MANE Select | ENSP00000386331.3:p.Arg2070Gln | |
| ENST00000670577.1:c.4010G>A | ||
| ENST00000409619.6:c.6062G>A | ENSP00000386635.2:p.Arg2021Gln | |
| ENST00000409709.7:c.6209G>A | ENSP00000386331.3:p.Arg2070Gln | |
| ENST00000458169.2:c.3635G>A | ENSP00000417017.2:p.Arg1212Gln | |
| ENST00000458637.6:c.6095G>A | ENSP00000392185.2:p.Arg2032Gln | |
| ENST00000481328.7:n.3745G>A | ||
| ENST00000526863.2:n.25+398G>A | ||
| ENST00000605744.1:n.1676G>A | ||
| NM_000260.3:c.6209G>A | NP_000251.3:p.Arg2070Gln | |
| NM_001127180.1:c.6095G>A | NP_001120652.1:p.Arg2032Gln | |
| XM_005274012.2:c.6092G>A | XP_005274069.1:p.Arg2031Gln | |
| XM_006718558.2:c.6200G>A | XP_006718621.1:p.Arg2067Gln | |
| XM_006718559.2:c.6095G>A | XP_006718622.1:p.Arg2032Gln | |
| XM_006718560.2:c.6092G>A | XP_006718623.1:p.Arg2031Gln | |
| XM_006718561.2:c.6095G>A | XP_006718624.1:p.Arg2032Gln | |
| XM_011545044.1:c.6209G>A | XP_011543346.1:p.Arg2070Gln | |
| XM_011545045.1:c.6203G>A | XP_011543347.1:p.Arg2068Gln | |
| XM_011545046.1:c.6176G>A | XP_011543348.1:p.Arg2059Gln | |
| XM_011545047.1:c.6113G>A | XP_011543349.1:p.Arg2038Gln | |
| XM_011545048.1:c.5984G>A | XP_011543350.1:p.Arg1995Gln | |
| XM_011545049.1:c.5972G>A | XP_011543351.1:p.Arg1991Gln | |
| XM_011545050.1:c.5945G>A | XP_011543352.1:p.Arg1982Gln | |
| XM_011545051.1:c.6209G>A | XP_011543353.1:p.Arg2070Gln | |
| XR_949938.1:n.6529G>A | ||
| XR_949941.1:n.6503G>A | ||
| XM_011545044.2:c.6209G>A | XP_011543346.1:p.Arg2070Gln | |
| XM_011545046.2:c.6299G>A | XP_011543348.2:p.Arg2100Gln | |
| XM_011545050.2:c.5945G>A | XP_011543352.1:p.Arg1982Gln | |
| XM_017017778.1:c.6293G>A | XP_016873267.1:p.Arg2098Gln | |
| XM_017017779.1:c.6290G>A | XP_016873268.1:p.Arg2097Gln | |
| XM_017017780.1:c.6299G>A | XP_016873269.1:p.Arg2100Gln | |
| XM_017017781.1:c.6203G>A | XP_016873270.1:p.Arg2068Gln | |
| XM_017017782.1:c.6185G>A | XP_016873271.1:p.Arg2062Gln | |
| XM_017017783.1:c.6182G>A | XP_016873272.1:p.Arg2061Gln | |
| XM_017017784.1:c.6182G>A | XP_016873273.1:p.Arg2061Gln | |
| XM_017017785.1:c.6062G>A | XP_016873274.1:p.Arg2021Gln | |
| XM_017017786.1:c.6299G>A | XP_016873275.1:p.Arg2100Gln | |
| XM_017017788.1:c.6185G>A | XP_016873277.1:p.Arg2062Gln | |
| XR_001747885.1:n.6288G>A | ||
| XR_001747887.1:n.6274G>A | ||
| NM_000260.4:c.6209G>A MANE Select | NP_000251.3:p.Arg2070Gln | |
| NM_001127180.2:c.6095G>A | NP_001120652.1:p.Arg2032Gln | |
| NM_001369365.1:c.6062G>A | NP_001356294.1:p.Arg2021Gln |