Linked Data
ClinVar Variation Id:
335188
dbSNP Id:
rs116254382
gnomAD v2:
2-240899888-G-A
gnomAD v3:
2-239960471-G-A
gnomAD v4:
2-239960471-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239960471G>A , CM000664.2:g.239960471G>A | GRCh38 |
| NC_000002.11:g.240899888G>A , CM000664.1:g.240899888G>A | GRCh37 |
| NC_000002.10:g.240548561G>A | NCBI36 |
| NG_031855.1:g.69932C>T | |
| NG_031855.2:g.69932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.*647C>T MANE Select | ENSP00000252711.2:n.*647C>T | |
| ENST00000476216.6:n.4854C>T | ||
| ENST00000676491.1:c.1000-1434C>T | ENSP00000504528.1:n.1000-1434C>T | |
| ENST00000676782.1:c.1000-21761C>T | ENSP00000504717.1:n.1000-21761C>T | |
| ENST00000676929.1:c.*95+552C>T | ENSP00000503956.1:n.*95+552C>T | |
| ENST00000677057.1:n.4028+44739C>T | ||
| ENST00000677155.1:c.*904C>T | ENSP00000502921.1:n.*904C>T | |
| ENST00000677294.1:c.*647C>T | ENSP00000503461.1:n.*647C>T | |
| ENST00000677324.1:n.4212C>T | ||
| ENST00000677395.1:c.*3411C>T | ENSP00000502890.1:n.*3411C>T | |
| ENST00000677407.1:c.1000-9453C>T | ENSP00000503141.1:n.1000-9453C>T | |
| ENST00000677692.1:n.4260+484C>T | ||
| ENST00000677764.1:c.*1026C>T | ENSP00000504547.1:n.*1026C>T | |
| ENST00000677979.1:c.*1194C>T | ENSP00000503341.1:n.*1194C>T | |
| ENST00000678158.1:c.*163+484C>T | ENSP00000504765.1:n.*163+484C>T | |
| ENST00000678188.1:n.4936C>T | ||
| ENST00000678455.1:c.*647C>T | ENSP00000504395.1:n.*647C>T | |
| ENST00000678468.1:c.*1253C>T | ENSP00000503925.1:n.*1253C>T | |
| ENST00000678562.1:c.*4550C>T | ENSP00000502954.1:n.*4550C>T | |
| ENST00000678832.1:c.*1371C>T | ENSP00000502992.1:n.*1371C>T | |
| ENST00000678914.1:c.*647C>T | ENSP00000504515.1:n.*647C>T | |
| ENST00000679183.1:c.999+29603C>T | ENSP00000503016.1:n.999+29603C>T | |
| ENST00000252711.6:c.*647C>T | ENSP00000252711.2:n.*647C>T | |
| ENST00000419408.5:c.294+29603C>T | ENSP00000408055.1:n.294+29603C>T | |
| ENST00000471378.1:n.82-1434C>T | ||
| NM_004544.3:c.*647C>T | NP_004535.1:n.*647C>T | |
| XM_011511229.1:c.*652C>T | XP_011509531.1:n.*652C>T | |
| NM_001322020.1:c.*652C>T | NP_001308949.1:n.*652C>T | |
| NR_136155.1:n.4858C>T | ||
| NR_136156.1:n.4749C>T | ||
| NR_136157.1:n.4689C>T | ||
| NR_136158.1:n.4033+44739C>T | ||
| NM_004544.4:c.*647C>T MANE Select | NP_004535.1:n.*647C>T | |
| NM_001322020.2:c.*652C>T | NP_001308949.1:n.*652C>T | |
| NR_136155.2:n.4798C>T | ||
| NR_136156.2:n.4689C>T | ||
| NR_136157.2:n.4629C>T | ||
| NR_136158.2:n.3973+44739C>T |