Linked Data
ClinVar Variation Id:
330740
dbSNP Id:
rs752112582
ExAC:
2:112656333 G / T
gnomAD v2:
2-112656333-G-T
gnomAD v3:
2-111898756-G-T
gnomAD v4:
2-111898756-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111898756G>T , CM000664.2:g.111898756G>T | GRCh38 |
| NC_000002.11:g.112656333G>T , CM000664.1:g.112656333G>T | GRCh37 |
| NC_000002.10:g.112372804G>T | NCBI36 |
| NG_011607.1:g.5143G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.21G>T MANE Select | ENSP00000295408.4:p.Pro7= | |
| ENST00000295408.8:c.21G>T | ENSP00000295408.4:p.Pro7= | |
| ENST00000409780.5:c.-87G>T | ENSP00000387277.1:n.-87G>T | |
| ENST00000421804.6:c.21G>T | ENSP00000389152.2:p.Pro7= | |
| ENST00000439966.5:c.21G>T | ENSP00000402129.1:p.Pro7= | |
| ENST00000616902.4:c.-1195G>T | ENSP00000482824.1:n.-1195G>T | |
| NM_006343.2:c.21G>T | NP_006334.2:p.Pro7= | |
| XM_005263565.3:c.21G>T | XP_005263622.1:p.Pro7= | |
| XM_005263568.3:c.21G>T | XP_005263625.1:p.Pro7= | |
| XM_005263565.4:c.21G>T | XP_005263622.1:p.Pro7= | |
| XM_005263568.4:c.21G>T | XP_005263625.1:p.Pro7= | |
| XM_017003165.2:c.-1247G>T | XP_016858654.1:n.-1247G>T | |
| NM_006343.3:c.21G>T MANE Select | NP_006334.2:p.Pro7= |