Linked Data
dbSNP Id:
rs767215189
ExAC:
11:48145417 G / C
gnomAD v2:
11-48145417-G-C
gnomAD v4:
11-48123865-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48123865G>C , CM000673.2:g.48123865G>C | GRCh38 |
| NC_000011.9:g.48145417G>C , CM000673.1:g.48145417G>C | GRCh37 |
| NC_000011.8:g.48101993G>C | NCBI36 |
| NG_012209.1:g.148308G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1211G>C | ENSP00000514003.1:p.Gly404Ala | |
| ENST00000418331.7:c.869G>C MANE Select | ENSP00000400010.2:p.Gly290Ala | |
| ENST00000418331.6:c.869G>C | ENSP00000400010.2:p.Gly290Ala | |
| ENST00000440289.6:c.869G>C | ENSP00000409733.2:p.Gly290Ala | |
| ENST00000613246.4:c.869G>C | ENSP00000477933.1:p.Gly290Ala | |
| ENST00000615445.4:c.869G>C | ENSP00000479342.1:p.Gly290Ala | |
| NM_001098503.1:c.869G>C | NP_001091973.1:p.Gly290Ala | |
| NM_002843.3:c.869G>C | NP_002834.3:p.Gly290Ala | |
| XM_011520249.1:c.902G>C | XP_011518551.1:p.Gly301Ala | |
| XR_930883.1:n.1219G>C | ||
| XM_017018083.1:c.947G>C | XP_016873572.1:p.Gly316Ala | |
| XM_017018084.1:c.890G>C | XP_016873573.1:p.Gly297Ala | |
| XM_017018085.1:c.821G>C | XP_016873574.1:p.Gly274Ala | |
| XR_930883.2:n.1278G>C | ||
| NM_002843.4:c.869G>C MANE Select | NP_002834.3:p.Gly290Ala | |
| NM_001098503.2:c.869G>C | NP_001091973.1:p.Gly290Ala |