Linked Data
ClinVar Variation Id:
2085776
ClinVar RCV Id:
RCV003005236
dbSNP Id:
rs373224319
ExAC:
12:45784196 G / T
gnomAD v2:
12-45784196-G-T
gnomAD v3:
12-45390413-G-T
gnomAD v4:
12-45390413-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45390413G>T , CM000674.2:g.45390413G>T | GRCh38 |
| NC_000012.11:g.45784196G>T , CM000674.1:g.45784196G>T | GRCh37 |
| NC_000012.10:g.44070463G>T | NCBI36 |
| NG_028220.1:g.179427G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320560.13:c.1309-8G>T MANE Select | ENSP00000320087.8:n.1309-8G>T | |
| ENST00000679426.1:c.1276-8G>T | ENSP00000506600.1:n.1276-8G>T | |
| ENST00000679761.1:c.1309-8G>T | ENSP00000505361.1:n.1309-8G>T | |
| ENST00000680201.1:c.1309-8G>T | ENSP00000506222.1:n.1309-8G>T | |
| ENST00000680371.1:c.1309-8G>T | ENSP00000506392.1:n.1309-8G>T | |
| ENST00000680498.1:c.892-8G>T | ENSP00000506613.1:n.892-8G>T | |
| ENST00000681156.1:c.1309-8G>T | ENSP00000506069.1:n.1309-8G>T | |
| ENST00000681817.1:c.892-8G>T | ENSP00000506683.1:n.892-8G>T | |
| ENST00000320560.12:c.1309-8G>T | ENSP00000320087.8:n.1309-8G>T | |
| ENST00000423947.7:c.1372-8G>T | ENSP00000409126.3:n.1372-8G>T | |
| ENST00000425752.6:c.1309-8G>T | ENSP00000391417.2:n.1309-8G>T | |
| ENST00000426898.2:n.1725-8G>T | ||
| ENST00000441606.2:c.1255-8G>T | ENSP00000413137.2:n.1255-8G>T | |
| NM_001025356.2:c.1309-8G>T | NP_001020527.2:n.1309-8G>T | |
| NM_001142678.1:c.1255-8G>T | NP_001136150.1:n.1255-8G>T | |
| NM_001142679.1:c.1309-8G>T | NP_001136151.1:n.1309-8G>T | |
| NM_001204803.1:c.1372-8G>T | NP_001191732.1:n.1372-8G>T | |
| XM_005268706.3:c.1276-8G>T | XP_005268763.1:n.1276-8G>T | |
| XM_005268707.2:c.1210-8G>T | XP_005268764.1:n.1210-8G>T | |
| XM_011538024.1:c.1372-8G>T | XP_011536326.1:n.1372-8G>T | |
| XR_944888.1:n.1405+7758C>A | ||
| XM_005268706.5:c.1276-8G>T | XP_005268763.1:n.1276-8G>T | |
| XM_005268707.4:c.1210-8G>T | XP_005268764.1:n.1210-8G>T | |
| NM_001025356.3:c.1309-8G>T MANE Select | NP_001020527.2:n.1309-8G>T | |
| NM_001142678.2:c.1255-8G>T | NP_001136150.1:n.1255-8G>T | |
| NM_001142679.2:c.1309-8G>T | NP_001136151.1:n.1309-8G>T | |
| NM_001204803.2:c.1372-8G>T | NP_001191732.1:n.1372-8G>T |