Linked Data
ClinVar Variation Id:
2776768
ClinVar RCV Id:
RCV003761695
dbSNP Id:
rs772543208
gnomAD v2:
1-169524598-A-G
gnomAD v3:
1-169555360-A-G
gnomAD v4:
1-169555360-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555360A>G , CM000663.2:g.169555360A>G | GRCh38 |
| NC_000001.10:g.169524598A>G , CM000663.1:g.169524598A>G | GRCh37 |
| NC_000001.9:g.167791222A>G | NCBI36 |
| NG_011806.1:g.36172T>C , LRG_553:g.36172T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.953-13T>C MANE Select | ENSP00000356771.3:n.953-13T>C | |
| ENST00000367796.3:c.953-13T>C | ENSP00000356770.3:n.953-13T>C | |
| ENST00000367797.7:c.953-13T>C | ENSP00000356771.3:n.953-13T>C | |
| NM_000130.4:c.953-13T>C , LRG_553t1:c.953-13T>C | NP_000121.2:n.953-13T>C | |
| XM_017000660.2:c.542-13T>C | XP_016856149.1:n.542-13T>C | |
| NM_000130.5:c.953-13T>C MANE Select | NP_000121.2:n.953-13T>C |