Linked Data
ClinVar Variation Id:
2870349
ClinVar RCV Id:
RCV003746268
dbSNP Id:
rs201643946
gnomAD v3:
1-160127536-C-T
gnomAD v4:
1-160127536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127536C>T , CM000663.2:g.160127536C>T | GRCh38 |
| NC_000001.10:g.160097326C>T , CM000663.1:g.160097326C>T | GRCh37 |
| NC_000001.9:g.158363950C>T | NCBI36 |
| NG_008014.1:g.16779C>T , LRG_6:g.16779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.749-16C>T MANE Select | ENSP00000354490.3:n.749-16C>T | |
| ENST00000361216.7:c.749-16C>T | ENSP00000354490.3:n.749-16C>T | |
| ENST00000392233.7:c.749-16C>T | ENSP00000376066.3:n.749-16C>T | |
| ENST00000472488.5:n.852-16C>T | ||
| NM_000702.3:c.749-16C>T | NP_000693.1:n.749-16C>T | |
| NM_000702.4:c.749-16C>T MANE Select | NP_000693.1:n.749-16C>T |