Linked Data
ClinVar Variation Id:
2876979
ClinVar RCV Id:
RCV003763510
dbSNP Id:
rs1416611256
gnomAD v2:
1-169541443-A-G
gnomAD v3:
1-169572205-A-G
gnomAD v4:
1-169572205-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572205A>G , CM000663.2:g.169572205A>G | GRCh38 |
| NC_000001.10:g.169541443A>G , CM000663.1:g.169541443A>G | GRCh37 |
| NC_000001.9:g.167808067A>G | NCBI36 |
| NG_011806.1:g.19327T>C , LRG_553:g.19327T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.373+16T>C MANE Select | ENSP00000356771.3:n.373+16T>C | |
| ENST00000367796.3:c.373+16T>C | ENSP00000356770.3:n.373+16T>C | |
| ENST00000367797.7:c.373+16T>C | ENSP00000356771.3:n.373+16T>C | |
| NM_000130.4:c.373+16T>C , LRG_553t1:c.373+16T>C | NP_000121.2:n.373+16T>C | |
| XM_017000660.2:c.-39+16T>C | XP_016856149.1:n.-39+16T>C | |
| NM_000130.5:c.373+16T>C MANE Select | NP_000121.2:n.373+16T>C |