Linked Data
ClinVar Variation Id:
744107
ClinVar RCV Id:
RCV000920530
dbSNP Id:
rs1571157558
gnomAD v3:
1-77935972-A-T
gnomAD v4:
1-77935972-A-T
MyVariant Identifiers:
chr1:g.78401657A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935972A>T , CM000663.2:g.77935972A>T | GRCh38 |
| NC_000001.10:g.78401657A>T , CM000663.1:g.78401657A>T | GRCh37 |
| NC_000001.9:g.78174245A>T | NCBI36 |
| NG_016625.1:g.52458A>T , LRG_442:g.52458A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1401A>T MANE Select | ENSP00000333938.7:p.Ile467= | |
| ENST00000330010.12:c.1209A>T | ENSP00000327363.8:p.Ile403= | |
| ENST00000334785.11:c.1401A>T | ENSP00000333938.7:p.Ile467= | |
| ENST00000342754.5:c.1100A>T | ||
| ENST00000480732.2:n.975A>T | ||
| NM_001172309.1:c.1209A>T | NP_001165780.1:p.Ile403= | |
| NM_144573.3:c.1401A>T , LRG_442t1:c.1401A>T | NP_653174.3:p.Ile467= | |
| XM_005271322.2:c.1401A>T | XP_005271379.1:p.Ile467= | |
| XM_005271323.2:c.1359A>T | XP_005271380.1:p.Ile453= | |
| XM_005271324.3:c.1209A>T | XP_005271381.1:p.Ile403= | |
| XM_005271325.2:c.1251+2493A>T | XP_005271382.1:n.1251+2493A>T | |
| XM_005271326.2:c.1167A>T | XP_005271383.1:p.Ile389= | |
| XM_005271327.2:c.984A>T | XP_005271384.1:p.Ile328= | |
| XM_005271322.4:c.1401A>T | XP_005271379.1:p.Ile467= | |
| XM_005271323.4:c.1359A>T | XP_005271380.1:p.Ile453= | |
| XM_005271324.5:c.1209A>T | XP_005271381.1:p.Ile403= | |
| XM_005271325.4:c.1251+2493A>T | XP_005271382.1:n.1251+2493A>T | |
| XM_005271326.4:c.1167A>T | XP_005271383.1:p.Ile389= | |
| XM_005271327.4:c.984A>T | XP_005271384.1:p.Ile328= | |
| NM_001172309.2:c.1209A>T | NP_001165780.1:p.Ile403= | |
| NM_144573.4:c.1401A>T MANE Select | NP_653174.3:p.Ile467= |