Linked Data
ClinVar Variation Id:
2688212
ClinVar RCV Id:
RCV003489121
dbSNP Id:
rs2025345
gnomAD v2:
10-6067688-A-G
gnomAD v3:
10-6025725-A-G
gnomAD v4:
10-6025725-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6025725A>G , CM000672.2:g.6025725A>G | GRCh38 |
| NC_000010.10:g.6067688A>G , CM000672.1:g.6067688A>G | GRCh37 |
| NC_000010.9:g.6107694A>G | NCBI36 |
| NG_007403.1:g.41585T>C , LRG_73:g.41585T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447847.2:c.256+109T>C | ENSP00000402024.2:n.256+109T>C | |
| ENST00000697424.1:c.256+109T>C | ENSP00000513307.1:n.256+109T>C | |
| ENST00000379959.8:c.256+109T>C MANE Select | ENSP00000369293.3:n.256+109T>C | |
| ENST00000256876.10:c.256+109T>C | ENSP00000256876.6:n.256+109T>C | |
| ENST00000379954.5:c.256+109T>C | ENSP00000369287.1:n.256+109T>C | |
| ENST00000379959.7:c.256+109T>C | ENSP00000369293.3:n.256+109T>C | |
| ENST00000447847.1:c.168+109T>C | ||
| NM_000417.2:c.256+109T>C , LRG_73t1:c.256+109T>C | NP_000408.1:n.256+109T>C | |
| NM_001308242.1:c.256+109T>C | NP_001295171.1:n.256+109T>C | |
| NM_001308243.1:c.256+109T>C | NP_001295172.1:n.256+109T>C | |
| NM_000417.3:c.256+109T>C MANE Select | NP_000408.1:n.256+109T>C | |
| NM_001308242.2:c.256+109T>C | NP_001295171.1:n.256+109T>C | |
| NM_001308243.2:c.256+109T>C | NP_001295172.1:n.256+109T>C |