Linked Data
dbSNP Id:
rs763106647
ExAC:
1:78407787 A / T
gnomAD v2:
1-78407787-A-T
gnomAD v4:
1-77942102-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942102A>T , CM000663.2:g.77942102A>T | GRCh38 |
| NC_000001.10:g.78407787A>T , CM000663.1:g.78407787A>T | GRCh37 |
| NC_000001.9:g.78180375A>T | NCBI36 |
| NG_016625.1:g.58588A>T , LRG_442:g.58588A>T | |
| NG_033243.2:g.41992T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1553A>T MANE Select | ENSP00000333938.7:p.Glu518Val | |
| ENST00000330010.12:c.1361A>T | ENSP00000327363.8:p.Glu454Val | |
| ENST00000334785.11:c.1553A>T | ENSP00000333938.7:p.Glu518Val | |
| ENST00000342754.5:c.1252A>T | ||
| ENST00000470735.1:n.392A>T | ||
| ENST00000480732.2:n.1127A>T | ||
| NM_001172309.1:c.1361A>T | NP_001165780.1:p.Glu454Val | |
| NM_144573.3:c.1553A>T , LRG_442t1:c.1553A>T | NP_653174.3:p.Glu518Val | |
| XM_005271322.2:c.1553A>T | XP_005271379.1:p.Glu518Val | |
| XM_005271323.2:c.1511A>T | XP_005271380.1:p.Glu504Val | |
| XM_005271324.3:c.1361A>T | XP_005271381.1:p.Glu454Val | |
| XM_005271325.2:c.1331A>T | XP_005271382.1:p.Glu444Val | |
| XM_005271326.2:c.1319A>T | XP_005271383.1:p.Glu440Val | |
| XM_005271327.2:c.1136A>T | XP_005271384.1:p.Glu379Val | |
| XM_005271322.4:c.1553A>T | XP_005271379.1:p.Glu518Val | |
| XM_005271323.4:c.1511A>T | XP_005271380.1:p.Glu504Val | |
| XM_005271324.5:c.1361A>T | XP_005271381.1:p.Glu454Val | |
| XM_005271325.4:c.1331A>T | XP_005271382.1:p.Glu444Val | |
| XM_005271326.4:c.1319A>T | XP_005271383.1:p.Glu440Val | |
| XM_005271327.4:c.1136A>T | XP_005271384.1:p.Glu379Val | |
| NM_001172309.2:c.1361A>T | NP_001165780.1:p.Glu454Val | |
| NM_144573.4:c.1553A>T MANE Select | NP_653174.3:p.Glu518Val |