Linked Data
ClinVar Variation Id:
1642483
ClinVar RCV Id:
RCV002153548
dbSNP Id:
rs772011597
gnomAD v2:
2-98341723-G-T
gnomAD v3:
2-97725260-G-T
gnomAD v4:
2-97725260-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97725260G>T , CM000664.2:g.97725260G>T | GRCh38 |
| NC_000002.11:g.98341723G>T , CM000664.1:g.98341723G>T | GRCh37 |
| NC_000002.10:g.97708155G>T | NCBI36 |
| NG_007727.1:g.16693G>T , LRG_126:g.16693G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.563+8G>T | ENSP00000513759.1:n.563+8G>T | |
| ENST00000698509.1:n.703+8G>T | ||
| ENST00000264972.10:c.563+8G>T MANE Select | ENSP00000264972.5:n.563+8G>T | |
| ENST00000264972.9:c.563+8G>T | ENSP00000264972.5:n.563+8G>T | |
| ENST00000463643.5:n.424+8G>T | ||
| ENST00000483781.5:n.756+8G>T | ||
| NM_001079.3:c.563+8G>T , LRG_126t1:c.563+8G>T | NP_001070.2:n.563+8G>T | |
| XM_005264015.3:c.563+8G>T | XP_005264072.1:n.563+8G>T | |
| XM_006712728.2:c.563+8G>T | XP_006712791.1:n.563+8G>T | |
| XM_011511783.1:c.563+8G>T | XP_011510085.1:n.563+8G>T | |
| XR_923018.1:n.765+8G>T | ||
| XR_923019.1:n.765+8G>T | ||
| XR_923020.1:n.765+8G>T | ||
| XM_017004867.1:c.932+8G>T | XP_016860356.1:n.932+8G>T | |
| XM_017004868.1:c.932+8G>T | XP_016860357.1:n.932+8G>T | |
| XM_017004869.1:c.932+8G>T | XP_016860358.1:n.932+8G>T | |
| XM_017004870.1:c.932+8G>T | XP_016860359.1:n.932+8G>T | |
| XR_001738925.1:n.2171+8G>T | ||
| XR_001738926.1:n.2171+8G>T | ||
| XR_001738927.1:n.2171+8G>T | ||
| NM_001079.4:c.563+8G>T MANE Select | NP_001070.2:n.563+8G>T | |
| NM_001378594.1:c.563+8G>T | NP_001365523.1:n.563+8G>T |