Linked Data
ClinVar Variation Id:
802346
ClinVar RCV Id:
RCV000987945
dbSNP Id:
rs1584921909
gnomAD v3:
7-116739949-G-T
gnomAD v4:
7-116739949-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116739949G>T , CM000669.2:g.116739949G>T | GRCh38 |
| NC_000007.13:g.116380003G>T , CM000669.1:g.116380003G>T | GRCh37 |
| NC_000007.12:g.116167239G>T | NCBI36 |
| NG_008996.1:g.72545G>T , LRG_662:g.72545G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.1393-1G>T | ENSP00000398776.2:n.1393-1G>T | |
| ENST00000436117.3:c.1393-1G>T | ENSP00000410980.2:n.1393-1G>T | |
| ENST00000318493.11:c.1393-1G>T | ENSP00000317272.6:n.1393-1G>T | |
| ENST00000397752.8:c.1393-1G>T MANE Select | ENSP00000380860.3:n.1393-1G>T | |
| ENST00000318493.10:c.1393-1G>T | ENSP00000317272.6:n.1393-1G>T | |
| ENST00000397752.7:c.1393-1G>T | ENSP00000380860.3:n.1393-1G>T | |
| ENST00000436117.2:c.1393-1G>T | ENSP00000410980.2:n.1393-1G>T | |
| ENST00000495962.1:n.373-1G>T | ||
| NM_000245.2:c.1393-1G>T | NP_000236.2:n.1393-1G>T | |
| NM_001127500.1:c.1393-1G>T , LRG_662t1:c.1393-1G>T | NP_001120972.1:n.1393-1G>T | |
| XM_006715990.2:c.103-1G>T | XP_006716053.1:n.103-1G>T | |
| XM_006715991.2:c.103-1G>T | XP_006716054.1:n.103-1G>T | |
| XM_011516223.1:c.1450-1G>T | XP_011514525.1:n.1450-1G>T | |
| NM_000245.3:c.1393-1G>T | NP_000236.2:n.1393-1G>T | |
| NM_001127500.2:c.1393-1G>T | NP_001120972.1:n.1393-1G>T | |
| NM_001324401.1:c.1393-1G>T | NP_001311330.1:n.1393-1G>T | |
| NM_001324402.1:c.103-1G>T | NP_001311331.1:n.103-1G>T | |
| XR_001744772.1:n.1624-1G>T | ||
| NM_001127500.3:c.1393-1G>T | NP_001120972.1:n.1393-1G>T | |
| NM_000245.4:c.1393-1G>T MANE Select | NP_000236.2:n.1393-1G>T | |
| NM_001324401.2:c.1393-1G>T | NP_001311330.1:n.1393-1G>T | |
| NM_001324402.2:c.103-1G>T | NP_001311331.1:n.103-1G>T | |
| NM_001324401.3:c.1393-1G>T | NP_001311330.1:n.1393-1G>T |