Linked Data
ClinVar Variation Id:
283706
dbSNP Id:
rs552613359
gnomAD v3:
7-157366570-G-T
gnomAD v4:
7-157366570-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157366570G>T , CM000669.2:g.157366570G>T | GRCh38 |
| NC_000007.13:g.157159264G>T , CM000669.1:g.157159264G>T | GRCh37 |
| NC_000007.12:g.156852025G>T | NCBI36 |
| NG_032573.1:g.34555G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.235+9G>T MANE Select | ENSP00000262177.4:n.235+9G>T | |
| ENST00000262177.8:c.235+9G>T | ENSP00000262177.4:n.235+9G>T | |
| ENST00000412557.5:c.235+9G>T | ENSP00000403407.1:n.235+9G>T | |
| ENST00000417758.5:c.235+9G>T | ENSP00000400665.1:n.235+9G>T | |
| ENST00000429029.6:c.235+9G>T | ENSP00000397556.2:n.235+9G>T | |
| ENST00000441291.5:c.235+9G>T | ENSP00000415201.1:n.235+9G>T | |
| ENST00000441561.5:c.235+9G>T | ENSP00000410643.1:n.235+9G>T | |
| ENST00000443280.5:c.235+9G>T | ENSP00000396267.1:n.235+9G>T | |
| ENST00000453383.5:c.235+9G>T | ENSP00000396240.1:n.235+9G>T | |
| ENST00000459889.5:c.235+9G>T | ENSP00000488263.1:n.235+9G>T | |
| ENST00000486083.6:n.402+9G>T | ||
| ENST00000488001.5:n.381+9G>T | ||
| ENST00000634080.1:c.235+9G>T | ENSP00000488740.1:n.235+9G>T | |
| NM_005494.2:c.235+9G>T | NP_005485.1:n.235+9G>T | |
| NM_058246.3:c.235+9G>T | NP_490647.1:n.235+9G>T | |
| XM_005249515.2:c.235+9G>T | XP_005249572.1:n.235+9G>T | |
| XM_005249516.2:c.235+9G>T | XP_005249573.1:n.235+9G>T | |
| XM_006715823.1:c.235+9G>T | XP_006715886.1:n.235+9G>T | |
| XM_011515704.1:c.235+9G>T | XP_011514006.1:n.235+9G>T | |
| NM_001363676.1:c.235+9G>T | NP_001350605.1:n.235+9G>T | |
| XM_005249515.3:c.235+9G>T | XP_005249572.1:n.235+9G>T | |
| XM_006715823.2:c.235+9G>T | XP_006715886.1:n.235+9G>T | |
| NM_058246.4:c.235+9G>T MANE Select | NP_490647.1:n.235+9G>T | |
| NM_005494.3:c.235+9G>T | NP_005485.1:n.235+9G>T |