Linked Data
ClinVar Variation Id:
298055
ClinVar RCV Id:
RCV000366810
dbSNP Id:
rs559469669
gnomAD v2:
1-70905441-C-T
gnomAD v3:
1-70439758-C-T
gnomAD v4:
1-70439758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70439758C>T , CM000663.2:g.70439758C>T | GRCh38 |
| NC_000001.10:g.70905441C>T , CM000663.1:g.70905441C>T | GRCh37 |
| NC_000001.9:g.70678029C>T | NCBI36 |
| NG_008041.1:g.33487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.*631C>T MANE Select | ENSP00000359976.3:n.*631C>T | |
| ENST00000411986.6:c.*631C>T | ENSP00000413407.2:n.*631C>T | |
| NM_001190463.1:c.*631C>T | NP_001177392.1:n.*631C>T | |
| NM_001902.5:c.*631C>T | NP_001893.2:n.*631C>T | |
| NM_153742.4:c.*631C>T | NP_714964.2:n.*631C>T | |
| XM_005270509.2:c.*631C>T | XP_005270566.1:n.*631C>T | |
| XM_011540787.1:c.*631C>T | XP_011539089.1:n.*631C>T | |
| XM_005270509.3:c.*631C>T | XP_005270566.1:n.*631C>T | |
| NM_001902.6:c.*631C>T MANE Select | NP_001893.2:n.*631C>T | |
| NM_001190463.2:c.*631C>T | NP_001177392.1:n.*631C>T | |
| NM_153742.5:c.*631C>T | NP_714964.2:n.*631C>T |