Linked Data
ClinVar Variation Id:
294758
dbSNP Id:
rs377459546
ExAC:
1:201046130 C / G
gnomAD v2:
1-201046130-C-G
gnomAD v3:
1-201077002-C-G
gnomAD v4:
1-201077002-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201077002C>G , CM000663.2:g.201077002C>G | GRCh38 |
| NC_000001.10:g.201046130C>G , CM000663.1:g.201046130C>G | GRCh37 |
| NC_000001.9:g.199312753C>G | NCBI36 |
| NG_009816.1:g.40565G>C | |
| NG_009816.2:g.40565G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1745G>C MANE Select | ENSP00000355192.3:p.Gly582Ala | |
| ENST00000679417.1:c.*908G>C | ENSP00000506706.1:n.*908G>C | |
| ENST00000680059.1:c.1745G>C | ENSP00000504944.1:p.Gly582Ala | |
| ENST00000681078.1:c.1745G>C | ENSP00000506645.1:p.Gly582Ala | |
| ENST00000681190.1:c.1745G>C | ENSP00000506428.1:p.Gly582Ala | |
| ENST00000681874.1:c.1745G>C | ENSP00000505162.1:p.Gly582Ala | |
| ENST00000362061.3:c.1745G>C | ENSP00000355192.3:p.Gly582Ala | |
| ENST00000367338.7:c.1745G>C | ENSP00000356307.3:p.Gly582Ala | |
| NM_000069.2:c.1745G>C | NP_000060.2:p.Gly582Ala | |
| XM_005245478.2:c.1745G>C | XP_005245535.1:p.Gly582Ala | |
| XM_005245478.3:c.1745G>C | XP_005245535.1:p.Gly582Ala | |
| NM_000069.3:c.1745G>C MANE Select | NP_000060.2:p.Gly582Ala |