Linked Data
ClinVar Variation Id:
334625
dbSNP Id:
rs192166927
gnomAD v2:
2-225338873-T-A
gnomAD v3:
2-224474156-T-A
gnomAD v4:
2-224474156-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224474156T>A , CM000664.2:g.224474156T>A | GRCh38 |
| NC_000002.11:g.225338873T>A , CM000664.1:g.225338873T>A | GRCh37 |
| NC_000002.10:g.225047117T>A | NCBI36 |
| NG_032169.1:g.116242A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.*89A>T MANE Select | ENSP00000264414.4:n.*89A>T | |
| ENST00000264414.8:c.*89A>T | ENSP00000264414.4:n.*89A>T | |
| ENST00000344951.8:c.*89A>T | ENSP00000343601.4:n.*89A>T | |
| ENST00000409096.5:c.*89A>T | ENSP00000387200.1:n.*89A>T | |
| ENST00000409777.5:c.*89A>T | ENSP00000386525.1:n.*89A>T | |
| ENST00000451538.1:c.423A>T | ||
| ENST00000454323.1:c.442A>T | ENSP00000400558.1:n.442A>T | |
| ENST00000497715.1:n.2146A>T | ||
| ENST00000617432.4:c.*89A>T | ENSP00000477851.1:n.*89A>T | |
| NM_001257197.1:c.*89A>T | NP_001244126.1:n.*89A>T | |
| NM_001257198.1:c.*89A>T | NP_001244127.1:n.*89A>T | |
| NM_003590.4:c.*89A>T | NP_003581.1:n.*89A>T | |
| XM_006712800.2:c.*89A>T | XP_006712863.2:n.*89A>T | |
| XM_011511994.1:c.*89A>T | XP_011510296.1:n.*89A>T | |
| XM_011511995.1:c.*89A>T | XP_011510297.1:n.*89A>T | |
| XM_011511996.1:c.*89A>T | XP_011510298.1:n.*89A>T | |
| XM_011511997.1:c.*89A>T | XP_011510299.1:n.*89A>T | |
| XM_011511994.3:c.*89A>T | XP_011510296.1:n.*89A>T | |
| XM_011511996.2:c.*89A>T | XP_011510298.1:n.*89A>T | |
| NM_003590.5:c.*89A>T MANE Select | NP_003581.1:n.*89A>T | |
| NM_001257198.2:c.*89A>T | NP_001244127.1:n.*89A>T | |
| NM_001257197.2:c.*89A>T | NP_001244126.1:n.*89A>T |