Linked Data
ClinVar Variation Id:
2919181
ClinVar RCV Id:
RCV003739282
dbSNP Id:
rs948433302
gnomAD v2:
11-76922259-G-A
gnomAD v3:
11-77211214-G-A
gnomAD v4:
11-77211214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211214G>A , CM000673.2:g.77211214G>A | GRCh38 |
| NC_000011.9:g.76922259G>A , CM000673.1:g.76922259G>A | GRCh37 |
| NC_000011.8:g.76599907G>A | NCBI36 |
| NG_009086.1:g.87950G>A | |
| NG_009086.2:g.87969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.6114G>A MANE Select | ENSP00000386331.3:p.Gly2038= | |
| ENST00000670577.1:c.3915G>A | ||
| ENST00000409619.6:c.5967G>A | ENSP00000386635.2:p.Gly1989= | |
| ENST00000409709.7:c.6114G>A | ENSP00000386331.3:p.Gly2038= | |
| ENST00000458169.2:c.3540G>A | ENSP00000417017.2:p.Gly1180= | |
| ENST00000458637.6:c.6000G>A | ENSP00000392185.2:p.Gly2000= | |
| ENST00000481328.7:n.3650G>A | ||
| ENST00000526863.2:n.25+303G>A | ||
| ENST00000605744.1:n.1581G>A | ||
| NM_000260.3:c.6114G>A | NP_000251.3:p.Gly2038= | |
| NM_001127180.1:c.6000G>A | NP_001120652.1:p.Gly2000= | |
| XM_005274012.2:c.5997G>A | XP_005274069.1:p.Gly1999= | |
| XM_006718558.2:c.6105G>A | XP_006718621.1:p.Gly2035= | |
| XM_006718559.2:c.6000G>A | XP_006718622.1:p.Gly2000= | |
| XM_006718560.2:c.5997G>A | XP_006718623.1:p.Gly1999= | |
| XM_006718561.2:c.6000G>A | XP_006718624.1:p.Gly2000= | |
| XM_011545044.1:c.6114G>A | XP_011543346.1:p.Gly2038= | |
| XM_011545045.1:c.6108G>A | XP_011543347.1:p.Gly2036= | |
| XM_011545046.1:c.6081G>A | XP_011543348.1:p.Gly2027= | |
| XM_011545047.1:c.6018G>A | XP_011543349.1:p.Gly2006= | |
| XM_011545048.1:c.5889G>A | XP_011543350.1:p.Gly1963= | |
| XM_011545049.1:c.5877G>A | XP_011543351.1:p.Gly1959= | |
| XM_011545050.1:c.5850G>A | XP_011543352.1:p.Gly1950= | |
| XM_011545051.1:c.6114G>A | XP_011543353.1:p.Gly2038= | |
| XR_949938.1:n.6434G>A | ||
| XR_949941.1:n.6408G>A | ||
| XM_011545044.2:c.6114G>A | XP_011543346.1:p.Gly2038= | |
| XM_011545046.2:c.6204G>A | XP_011543348.2:p.Gly2068= | |
| XM_011545050.2:c.5850G>A | XP_011543352.1:p.Gly1950= | |
| XM_017017778.1:c.6198G>A | XP_016873267.1:p.Gly2066= | |
| XM_017017779.1:c.6195G>A | XP_016873268.1:p.Gly2065= | |
| XM_017017780.1:c.6204G>A | XP_016873269.1:p.Gly2068= | |
| XM_017017781.1:c.6108G>A | XP_016873270.1:p.Gly2036= | |
| XM_017017782.1:c.6090G>A | XP_016873271.1:p.Gly2030= | |
| XM_017017783.1:c.6087G>A | XP_016873272.1:p.Gly2029= | |
| XM_017017784.1:c.6087G>A | XP_016873273.1:p.Gly2029= | |
| XM_017017785.1:c.5967G>A | XP_016873274.1:p.Gly1989= | |
| XM_017017786.1:c.6204G>A | XP_016873275.1:p.Gly2068= | |
| XM_017017788.1:c.6090G>A | XP_016873277.1:p.Gly2030= | |
| XR_001747885.1:n.6193G>A | ||
| XR_001747886.1:n.6134G>A | ||
| XR_001747887.1:n.6179G>A | ||
| NM_000260.4:c.6114G>A MANE Select | NP_000251.3:p.Gly2038= | |
| NM_001127180.2:c.6000G>A | NP_001120652.1:p.Gly2000= | |
| NM_001369365.1:c.5967G>A | NP_001356294.1:p.Gly1989= |