Linked Data
ClinVar Variation Id:
1273152
ClinVar RCV Id:
RCV001678975
dbSNP Id:
rs4234134
gnomAD v2:
3-38887970-T-A
gnomAD v3:
3-38846479-T-A
gnomAD v4:
3-38846479-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38846479T>A , CM000665.2:g.38846479T>A | GRCh38 |
| NC_000003.11:g.38887970T>A , CM000665.1:g.38887970T>A | GRCh37 |
| NC_000003.10:g.38862974T>A | NCBI36 |
| NG_033859.1:g.109083A>T | |
| NG_033859.2:g.210508A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.*215A>T MANE Select | ENSP00000307599.3:n.*215A>T | |
| ENST00000668754.1:c.*215A>T | ENSP00000499569.1:n.*215A>T | |
| ENST00000302328.7:c.*215A>T | ENSP00000307599.3:n.*215A>T | |
| NM_001287223.1:c.*215A>T | NP_001274152.1:n.*215A>T | |
| NM_014139.2:c.*215A>T | NP_054858.2:n.*215A>T | |
| XM_011533320.1:c.*215A>T | XP_011531622.1:n.*215A>T | |
| XM_011533321.1:c.*215A>T | XP_011531623.1:n.*215A>T | |
| XM_011533322.1:c.*215A>T | XP_011531624.1:n.*215A>T | |
| NM_001349253.1:c.*215A>T | NP_001336182.1:n.*215A>T | |
| XM_011533321.2:c.*215A>T | XP_011531623.1:n.*215A>T | |
| XM_017005647.1:c.*215A>T | XP_016861136.1:n.*215A>T | |
| XM_017005648.1:c.*215A>T | XP_016861137.1:n.*215A>T | |
| XM_017005650.1:c.*215A>T | XP_016861139.1:n.*215A>T | |
| XM_017005651.1:c.*215A>T | XP_016861140.1:n.*215A>T | |
| XM_017005653.1:c.*215A>T | XP_016861142.1:n.*215A>T | |
| NM_001349253.2:c.*215A>T MANE Select | NP_001336182.1:n.*215A>T | |
| NM_014139.3:c.*215A>T | NP_054858.2:n.*215A>T |