Linked Data
ClinVar Variation Id:
1157677
ClinVar RCV Id:
RCV001500817
dbSNP Id:
rs758885126
ExAC:
5:70930974 G / T
gnomAD v2:
5-70930974-G-T
gnomAD v3:
5-71635147-G-T
gnomAD v4:
5-71635147-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635147G>T , CM000667.2:g.71635147G>T | GRCh38 |
| NC_000005.9:g.70930974G>T , CM000667.1:g.70930974G>T | GRCh37 |
| NC_000005.8:g.70966730G>T | NCBI36 |
| NG_008882.1:g.52860G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.860-4G>T | ||
| ENST00000505787.8:n.2744-4G>T | ||
| ENST00000509358.7:c.904-4G>T | ENSP00000420994.3:n.904-4G>T | |
| ENST00000509539.3:c.166-4G>T | ENSP00000425474.3:n.166-4G>T | |
| ENST00000510895.7:n.1027-4G>T | ||
| ENST00000629193.3:c.790-4G>T | ENSP00000486535.2:n.790-4G>T | |
| ENST00000681968.1:c.397-4G>T | ENSP00000508143.1:n.397-4G>T | |
| ENST00000682045.1:c.760-4G>T | ENSP00000507329.1:n.760-4G>T | |
| ENST00000682214.1:c.511-4G>T | ENSP00000507336.1:n.511-4G>T | |
| ENST00000682499.1:n.1725-4G>T | ||
| ENST00000682541.1:c.904-4G>T | ENSP00000507673.1:n.904-4G>T | |
| ENST00000682687.1:c.904-4G>T | ENSP00000507945.1:n.904-4G>T | |
| ENST00000682727.1:c.904-4G>T | ENSP00000507393.1:n.904-4G>T | |
| ENST00000682876.1:c.1033-4G>T | ENSP00000508389.1:n.1033-4G>T | |
| ENST00000683098.1:c.803+2962G>T | ENSP00000507670.1:n.803+2962G>T | |
| ENST00000683258.1:c.*625-4G>T | ENSP00000507448.1:n.*625-4G>T | |
| ENST00000683339.1:c.688-4G>T | ENSP00000507758.1:n.688-4G>T | |
| ENST00000683403.1:c.814-4G>T | ENSP00000507896.1:n.814-4G>T | |
| ENST00000683429.1:c.511-4G>T | ENSP00000507697.1:n.511-4G>T | |
| ENST00000683665.1:c.904-4G>T | ENSP00000507068.1:n.904-4G>T | |
| ENST00000683789.1:c.790-4G>T | ENSP00000507012.1:n.790-4G>T | |
| ENST00000683847.1:n.748-4G>T | ||
| ENST00000683882.1:c.904-4G>T | ENSP00000506735.1:n.904-4G>T | |
| ENST00000684024.1:c.*575-4G>T | ENSP00000507175.1:n.*575-4G>T | |
| ENST00000684254.1:c.*630-4G>T | ENSP00000508001.1:n.*630-4G>T | |
| ENST00000684310.1:c.165+105G>T | ENSP00000507550.1:n.165+105G>T | |
| ENST00000684530.1:c.166-4G>T | ENSP00000507439.1:n.166-4G>T | |
| ENST00000684652.1:n.1906-4G>T | ||
| ENST00000340941.11:c.904-4G>T MANE Select | ENSP00000343657.6:n.904-4G>T | |
| ENST00000340941.10:c.904-4G>T | ENSP00000343657.6:n.904-4G>T | |
| ENST00000505435.3:n.255-4G>T | ||
| ENST00000509358.6:c.904-4G>T | ENSP00000420994.2:n.904-4G>T | |
| ENST00000509539.2:c.229-4G>T | ENSP00000425474.2:n.229-4G>T | |
| ENST00000510895.6:n.518-4G>T | ||
| ENST00000512218.6:c.790-4G>T | ENSP00000423202.2:n.790-4G>T | |
| ENST00000629193.2:c.790-4G>T | ENSP00000486535.1:n.790-4G>T | |
| NM_022132.4:c.904-4G>T | NP_071415.1:n.904-4G>T | |
| XM_005248567.1:c.790-4G>T | XP_005248624.1:n.790-4G>T | |
| XM_011543528.1:c.904-4G>T | XP_011541830.1:n.904-4G>T | |
| XM_011543529.1:c.904-4G>T | XP_011541831.1:n.904-4G>T | |
| NM_001363147.1:c.790-4G>T | NP_001350076.1:n.790-4G>T | |
| XM_011543529.2:c.904-4G>T | XP_011541831.1:n.904-4G>T | |
| XM_017009688.1:c.904-4G>T | XP_016865177.1:n.904-4G>T | |
| XR_001742172.1:n.944-4G>T | ||
| NM_022132.5:c.904-4G>T MANE Select | NP_071415.1:n.904-4G>T |