Linked Data
ClinVar Variation Id:
359310
dbSNP Id:
rs371749379
ExAC:
7:150648000 T / A
gnomAD v2:
7-150648000-T-A
gnomAD v3:
7-150950912-T-A
gnomAD v4:
7-150950912-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950912T>A , CM000669.2:g.150950912T>A | GRCh38 |
| NC_000007.13:g.150648000T>A , CM000669.1:g.150648000T>A | GRCh37 |
| NC_000007.12:g.150278933T>A | NCBI36 |
| NG_008916.1:g.32015A>T , LRG_288:g.32015A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1443+9A>T | ||
| ENST00000683359.1:n.278A>T | ||
| ENST00000684241.1:n.2978+9A>T | ||
| ENST00000262186.10:c.2145+9A>T MANE Select | ENSP00000262186.5:n.2145+9A>T | |
| ENST00000330883.9:c.1125+9A>T | ENSP00000328531.4:n.1125+9A>T | |
| ENST00000262186.9:c.2145+9A>T | ENSP00000262186.5:n.2145+9A>T | |
| ENST00000330883.8:c.1125+9A>T | ENSP00000328531.4:n.1125+9A>T | |
| ENST00000430723.4:c.1797+9A>T | ENSP00000387657.4:n.1797+9A>T | |
| ENST00000461280.1:n.1432+9A>T | ||
| ENST00000473610.5:n.1777+9A>T | ||
| ENST00000532957.5:n.2368+9A>T | ||
| NM_000238.3:c.2145+9A>T , LRG_288t1:c.2145+9A>T | NP_000229.1:n.2145+9A>T | |
| NM_001204798.1:c.1125+9A>T | NP_001191727.1:n.1125+9A>T | |
| NM_172056.2:c.2145+9A>T , LRG_288t2:c.2145+9A>T | NP_742053.1:n.2145+9A>T | |
| NM_172057.2:c.1125+9A>T , LRG_288t3:c.1125+9A>T | NP_742054.1:n.1125+9A>T | |
| XM_011516185.1:c.1845+9A>T | XP_011514487.1:n.1845+9A>T | |
| XM_011516186.1:c.2145+9A>T | XP_011514488.1:n.2145+9A>T | |
| XM_011516185.2:c.1845+9A>T | XP_011514487.1:n.1845+9A>T | |
| XM_011516186.3:c.2145+9A>T | XP_011514488.1:n.2145+9A>T | |
| XM_017012195.1:c.1995+9A>T | XP_016867684.1:n.1995+9A>T | |
| XM_017012196.1:c.1968+9A>T | XP_016867685.1:n.1968+9A>T | |
| NM_000238.4:c.2145+9A>T MANE Select | NP_000229.1:n.2145+9A>T | |
| NM_001204798.2:c.1125+9A>T | NP_001191727.1:n.1125+9A>T | |
| NM_172057.3:c.1125+9A>T | NP_742054.1:n.1125+9A>T |