Linked Data
ClinVar Variation Id:
514097
ClinVar RCV Id:
RCV000609813
dbSNP Id:
rs1033973716
gnomAD v2:
17-78075405-C-T
gnomAD v3:
17-80101606-C-T
gnomAD v4:
17-80101606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101606C>T , CM000679.2:g.80101606C>T | GRCh38 |
| NC_000017.10:g.78075405C>T , CM000679.1:g.78075405C>T | GRCh37 |
| NC_000017.9:g.75690000C>T | NCBI36 |
| NG_009822.1:g.5051C>T , LRG_673:g.5051C>T | |
| NG_029761.1:g.69975C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570803.6:c.-52C>T | ENSP00000460543.2:n.-52C>T | |
| ENST00000572080.2:c.-132C>T | ENSP00000459972.2:n.-132C>T | |
| ENST00000577106.6:c.-167C>T | ENSP00000458306.2:n.-167C>T | |
| ENST00000302262.8:c.-317C>T MANE Select | ENSP00000305692.3:n.-317C>T | |
| ENST00000390015.7:c.-132C>T | ENSP00000374665.3:n.-132C>T | |
| ENST00000570803.5:c.-52C>T | ENSP00000460543.1:n.-52C>T | |
| ENST00000574376.1:n.10C>T | ||
| ENST00000577106.5:c.-167C>T | ENSP00000458306.1:n.-167C>T | |
| NM_000152.3:c.-317C>T , LRG_673t1:c.-317C>T | NP_000143.2:n.-317C>T | |
| NM_001079803.1:c.-132C>T | NP_001073271.1:n.-132C>T | |
| NM_001079804.1:c.-52C>T | NP_001073272.1:n.-52C>T | |
| XM_005257194.3:c.-167C>T | XP_005257251.1:n.-167C>T | |
| NM_000152.4:c.-317C>T | NP_000143.2:n.-317C>T | |
| NM_001079803.2:c.-132C>T | NP_001073271.1:n.-132C>T | |
| NM_001079804.2:c.-52C>T | NP_001073272.1:n.-52C>T | |
| NR_134848.1:n.81C>T | ||
| XM_005257194.4:c.-167C>T | XP_005257251.1:n.-167C>T | |
| NM_000152.5:c.-317C>T MANE Select | NP_000143.2:n.-317C>T | |
| NM_001079803.3:c.-132C>T | NP_001073271.1:n.-132C>T | |
| NM_001079804.3:c.-52C>T | NP_001073272.1:n.-52C>T | |
| NR_134848.2:n.26C>T |