Linked Data
ClinVar Variation Id:
1348782
ClinVar RCV Id:
RCV002046605
dbSNP Id:
rs780097762
ExAC:
1:103455122 T / A
gnomAD v2:
1-103455122-T-A
gnomAD v4:
1-102989566-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102989566T>A , CM000663.2:g.102989566T>A | GRCh38 |
| NC_000001.10:g.103455122T>A , CM000663.1:g.103455122T>A | GRCh37 |
| NC_000001.9:g.103227710T>A | NCBI36 |
| NG_008033.1:g.123931A>T | |
| NG_008033.2:g.123931A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2346A>T MANE Select | ENSP00000359114.3:p.Glu782Asp | |
| ENST00000353414.8:c.2229A>T | ENSP00000302551.6:p.Glu743Asp | |
| ENST00000358392.6:c.2382A>T | ENSP00000351163.2:p.Glu794Asp | |
| ENST00000370096.7:c.2346A>T | ENSP00000359114.3:p.Glu782Asp | |
| ENST00000512756.5:c.1998A>T | ENSP00000426533.1:p.Glu666Asp | |
| ENST00000635193.1:c.1664A>T | ||
| NM_001190709.1:c.2229A>T | NP_001177638.1:p.Glu743Asp | |
| NM_001854.3:c.2346A>T | NP_001845.3:p.Glu782Asp | |
| NM_080629.2:c.2382A>T | NP_542196.2:p.Glu794Asp | |
| NM_080630.3:c.1998A>T | NP_542197.3:p.Glu666Asp | |
| XM_011540719.1:c.2346A>T | XP_011539021.1:p.Glu782Asp | |
| XM_011540720.1:c.579A>T | XP_011539022.1:p.Glu193Asp | |
| XM_011540721.1:c.-83A>T | XP_011539023.1:n.-83A>T | |
| XR_946545.1:n.2744A>T | ||
| NR_134980.1:n.2664A>T | ||
| XM_017000334.1:c.2499A>T | XP_016855823.1:p.Glu833Asp | |
| XM_017000335.1:c.2493A>T | XP_016855824.1:p.Glu831Asp | |
| XM_017000336.1:c.2499A>T | XP_016855825.1:p.Glu833Asp | |
| XM_017000337.1:c.897A>T | XP_016855826.1:p.Glu299Asp | |
| NM_001854.4:c.2346A>T MANE Select | NP_001845.3:p.Glu782Asp | |
| NM_080630.4:c.1998A>T | NP_542197.3:p.Glu666Asp | |
| NR_134980.2:n.2690A>T | ||
| NM_001190709.2:c.2229A>T | NP_001177638.1:p.Glu743Asp | |
| NM_080629.3:c.2382A>T | NP_542196.2:p.Glu794Asp |