Linked Data
ClinVar Variation Id:
43338
ClinVar RCV Id:
RCV000036244
RCV000224230
RCV000295167
RCV000330682
RCV000387468
RCV001275541
RCV001526689
dbSNP Id:
rs111033231
ExAC:
11:76925733 G / A
gnomAD v2:
11-76925733-G-A
gnomAD v3:
11-77214688-G-A
gnomAD v4:
11-77214688-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77214688G>A , CM000673.2:g.77214688G>A | GRCh38 |
| NC_000011.9:g.76925733G>A , CM000673.1:g.76925733G>A | GRCh37 |
| NC_000011.8:g.76603381G>A | NCBI36 |
| NG_009086.1:g.91424G>A | |
| NG_009086.2:g.91443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6640G>A MANE Select | ENSP00000386331.3:p.Gly2214Ser | |
| ENST00000670577.1:c.4441G>A | ||
| ENST00000409619.6:c.6493G>A | ENSP00000386635.2:p.Gly2165Ser | |
| ENST00000409709.7:c.6640G>A | ENSP00000386331.3:p.Gly2214Ser | |
| ENST00000458169.2:c.4066G>A | ENSP00000417017.2:p.Gly1356Ser | |
| ENST00000458637.6:c.6520G>A | ENSP00000392185.2:p.Gly2174Ser | |
| ENST00000481328.7:n.5190G>A | ||
| ENST00000605744.1:n.2154G>A | ||
| NM_000260.3:c.6640G>A | NP_000251.3:p.Gly2214Ser | |
| NM_001127180.1:c.6520G>A | NP_001120652.1:p.Gly2174Ser | |
| XM_005274012.2:c.6523G>A | XP_005274069.1:p.Gly2175Ser | |
| XM_006718561.2:c.6526G>A | XP_006718624.1:p.Gly2176Ser | |
| XR_949941.1:n.6934G>A | ||
| XM_017017780.1:c.6730G>A | XP_016873269.1:p.Gly2244Ser | |
| XM_017017784.1:c.6613G>A | XP_016873273.1:p.Gly2205Ser | |
| XM_017017788.1:c.6616G>A | XP_016873277.1:p.Gly2206Ser | |
| XR_001747885.1:n.6719G>A | ||
| XR_001747887.1:n.6705G>A | ||
| NM_000260.4:c.6640G>A MANE Select | NP_000251.3:p.Gly2214Ser | |
| NM_001127180.2:c.6520G>A | NP_001120652.1:p.Gly2174Ser | |
| NM_001369365.1:c.6493G>A | NP_001356294.1:p.Gly2165Ser |