Linked Data
dbSNP Id:
rs762898853
ExAC:
1:78407861 G / C
gnomAD v2:
1-78407861-G-C
gnomAD v4:
1-77942176-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942176G>C , CM000663.2:g.77942176G>C | GRCh38 |
| NC_000001.10:g.78407861G>C , CM000663.1:g.78407861G>C | GRCh37 |
| NC_000001.9:g.78180449G>C | NCBI36 |
| NG_016625.1:g.58662G>C , LRG_442:g.58662G>C | |
| NG_033243.2:g.41918C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1627G>C MANE Select | ENSP00000333938.7:p.Glu543Gln | |
| ENST00000330010.12:c.1435G>C | ENSP00000327363.8:p.Glu479Gln | |
| ENST00000334785.11:c.1627G>C | ENSP00000333938.7:p.Glu543Gln | |
| ENST00000342754.5:c.1326G>C | ||
| ENST00000470735.1:n.466G>C | ||
| ENST00000480732.2:n.1201G>C | ||
| NM_001172309.1:c.1435G>C | NP_001165780.1:p.Glu479Gln | |
| NM_144573.3:c.1627G>C , LRG_442t1:c.1627G>C | NP_653174.3:p.Glu543Gln | |
| XM_005271322.2:c.1627G>C | XP_005271379.1:p.Glu543Gln | |
| XM_005271323.2:c.1585G>C | XP_005271380.1:p.Glu529Gln | |
| XM_005271324.3:c.1435G>C | XP_005271381.1:p.Glu479Gln | |
| XM_005271325.2:c.1405G>C | XP_005271382.1:p.Glu469Gln | |
| XM_005271326.2:c.1393G>C | XP_005271383.1:p.Glu465Gln | |
| XM_005271327.2:c.1210G>C | XP_005271384.1:p.Glu404Gln | |
| XM_005271322.4:c.1627G>C | XP_005271379.1:p.Glu543Gln | |
| XM_005271323.4:c.1585G>C | XP_005271380.1:p.Glu529Gln | |
| XM_005271324.5:c.1435G>C | XP_005271381.1:p.Glu479Gln | |
| XM_005271325.4:c.1405G>C | XP_005271382.1:p.Glu469Gln | |
| XM_005271326.4:c.1393G>C | XP_005271383.1:p.Glu465Gln | |
| XM_005271327.4:c.1210G>C | XP_005271384.1:p.Glu404Gln | |
| NM_001172309.2:c.1435G>C | NP_001165780.1:p.Glu479Gln | |
| NM_144573.4:c.1627G>C MANE Select | NP_653174.3:p.Glu543Gln |