Linked Data
ClinVar Variation Id:
2913417
ClinVar RCV Id:
RCV003624983
dbSNP Id:
rs750697458
ExAC:
9:6558546 A / G
gnomAD v2:
9-6558546-A-G
gnomAD v4:
9-6558546-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558546A>G , CM000671.2:g.6558546A>G | GRCh38 |
| NC_000009.11:g.6558546A>G , CM000671.1:g.6558546A>G | GRCh37 |
| NC_000009.10:g.6548546A>G | NCBI36 |
| NG_016397.1:g.92147T>C , LRG_643:g.92147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2052+13T>C MANE Select | ENSP00000370737.4:n.2052+13T>C | |
| ENST00000460457.2:n.212+13T>C | ||
| ENST00000638233.1:n.487+13T>C | ||
| ENST00000638661.1:c.252+13T>C | ENSP00000491369.1:n.252+13T>C | |
| ENST00000638694.1:n.239+13T>C | ||
| ENST00000639318.1:c.252+13T>C | ENSP00000491932.1:n.252+13T>C | |
| ENST00000639364.1:n.1752+13T>C | ||
| ENST00000639443.1:n.1620+13T>C | ||
| ENST00000639954.1:n.1760+13T>C | ||
| ENST00000640208.1:c.265T>C | ENSP00000491895.1:p.Ser89Pro | |
| ENST00000640505.1:n.291+13T>C | ||
| ENST00000640592.1:n.1948T>C | ||
| ENST00000321612.6:c.2052+13T>C | ENSP00000370737.3:n.2052+13T>C | |
| ENST00000460457.1:n.204T>C | ||
| NM_000170.2:c.2052+13T>C , LRG_643t1:c.2052+13T>C | NP_000161.2:n.2052+13T>C | |
| NM_000170.3:c.2052+13T>C MANE Select | NP_000161.2:n.2052+13T>C |