Linked Data
ClinVar Variation Id:
94009
dbSNP Id:
rs74103423
ExAC:
1:100681641 C / A
gnomAD v2:
1-100681641-C-A
gnomAD v3:
1-100216085-C-A
gnomAD v4:
1-100216085-C-A
PubMed:
PMID:8430702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100216085C>A , CM000663.2:g.100216085C>A | GRCh38 |
| NC_000001.10:g.100681641C>A , CM000663.1:g.100681641C>A | GRCh37 |
| NC_000001.9:g.100454229C>A | NCBI36 |
| NG_011852.2:g.38769G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.670G>T | ENSP00000505544.1:p.Glu224Ter | |
| ENST00000681780.1:c.127G>T | ENSP00000505780.1:p.Glu43Ter | |
| ENST00000370131.3:c.670G>T | ENSP00000359150.3:p.Glu224Ter | |
| ENST00000370132.8:c.670G>T MANE Select | ENSP00000359151.3:p.Glu224Ter | |
| NM_001918.3:c.670G>T | NP_001909.3:p.Glu224Ter | |
| XM_005270545.2:c.127G>T | XP_005270602.1:p.Glu43Ter | |
| XM_005270546.2:c.127G>T | XP_005270603.1:p.Glu43Ter | |
| XR_946560.1:n.690G>T | ||
| XM_005270545.4:c.127G>T | XP_005270602.1:p.Glu43Ter | |
| XM_017000468.2:c.127G>T | XP_016855957.1:p.Glu43Ter | |
| XM_017000469.2:c.127G>T | XP_016855958.1:p.Glu43Ter | |
| XR_946560.3:n.687G>T | ||
| NM_001918.4:c.670G>T | NP_001909.3:p.Glu224Ter | |
| NM_001918.5:c.670G>T MANE Select | NP_001909.4:p.Glu224Ter | |
| NM_001399969.1:c.127G>T | NP_001386898.1:p.Glu43Ter | |
| NM_001399972.1:c.127G>T | NP_001386901.1:p.Glu43Ter | |
| NR_174363.1:n.502G>T | ||
| NR_174364.1:n.684G>T | ||
| NR_174365.1:n.570-1102G>T | ||
| NR_174366.1:n.684G>T |