Linked Data
dbSNP Id:
rs782325115
ExAC:
11:70332152 C / G
gnomAD v2:
11-70332152-C-G
gnomAD v4:
11-70486047-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70486047C>G , CM000673.2:g.70486047C>G | GRCh38 |
| NC_000011.9:g.70332152C>G , CM000673.1:g.70332152C>G | GRCh37 |
| NC_000011.8:g.70009800C>G | NCBI36 |
| NG_042866.1:g.643750G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.2479G>C | ENSP00000345193.7:p.Glu827Gln | |
| ENST00000412252.6:c.757+4256G>C | ENSP00000414876.2:n.757+4256G>C | |
| ENST00000601538.6:c.4246G>C MANE Select | ENSP00000469689.2:p.Glu1416Gln | |
| ENST00000654939.1:c.1674G>C | ||
| ENST00000656230.1:c.3109G>C | ENSP00000499561.1:p.Glu1037Gln | |
| ENST00000659264.1:c.2536G>C | ENSP00000499270.1:p.Glu846Gln | |
| ENST00000338508.8:c.2482G>C | ENSP00000345193.6:p.Glu828Gln | |
| ENST00000357171.7:c.718+4256G>C | ENSP00000349694.4:n.718+4256G>C | |
| ENST00000409161.5:c.2458G>C | ENSP00000386491.1:p.Glu820Gln | |
| ENST00000412252.5:c.755+4256G>C | ||
| ENST00000423696.6:c.3109G>C | ENSP00000394536.2:p.Glu1037Gln | |
| ENST00000424924.5:c.2083G>C | ENSP00000402944.1:p.Glu695Gln | |
| ENST00000449833.6:c.2482G>C | ENSP00000399423.3:p.Glu828Gln | |
| ENST00000601538.5:c.4246G>C | ENSP00000469689.2:p.Glu1416Gln | |
| NM_012309.4:c.4246G>C | NP_036441.2:p.Glu1416Gln | |
| NM_133266.4:c.2482G>C | NP_573573.2:p.Glu828Gln | |
| NR_110766.1:n.833+4256G>C | ||
| XM_005277930.2:c.4246G>C | XP_005277987.1:p.Glu1416Gln | |
| XM_005277932.2:c.3109G>C | XP_005277989.1:p.Glu1037Gln | |
| XM_006718478.2:c.4216G>C | XP_006718541.1:p.Glu1406Gln | |
| XM_011544854.1:c.4258G>C | XP_011543156.1:p.Glu1420Gln | |
| XM_011544855.1:c.4237G>C | XP_011543157.1:p.Glu1413Gln | |
| XM_011544856.1:c.4231G>C | XP_011543158.1:p.Glu1411Gln | |
| XM_011544857.1:c.4210G>C | XP_011543159.1:p.Glu1404Gln | |
| XM_011544858.1:c.4258G>C | XP_011543160.1:p.Glu1420Gln | |
| XM_011544859.1:c.3121G>C | XP_011543161.1:p.Glu1041Gln | |
| XM_005277932.3:c.3109G>C | XP_005277989.1:p.Glu1037Gln | |
| XM_017017387.1:c.4246G>C | XP_016872876.1:p.Glu1416Gln | |
| XM_017017388.1:c.4246G>C | XP_016872877.1:p.Glu1416Gln | |
| XM_017017389.1:c.4219G>C | XP_016872878.1:p.Glu1407Gln | |
| XM_017017390.1:c.2536G>C | XP_016872879.1:p.Glu846Gln | |
| NM_133266.5:c.2482G>C | NP_573573.2:p.Glu828Gln | |
| NR_110766.2:n.834+4256G>C | ||
| NM_001379226.1:c.3109G>C | NP_001366155.1:p.Glu1037Gln | |
| NM_012309.5:c.4246G>C MANE Select | NP_036441.2:p.Glu1416Gln |