Linked Data
ClinVar Variation Id:
2162052
ClinVar RCV Id:
RCV003089816
dbSNP Id:
rs1265639786
gnomAD v2:
9-6558555-G-A
gnomAD v3:
9-6558555-G-A
gnomAD v4:
9-6558555-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558555G>A , CM000671.2:g.6558555G>A | GRCh38 |
| NC_000009.11:g.6558555G>A , CM000671.1:g.6558555G>A | GRCh37 |
| NC_000009.10:g.6548555G>A | NCBI36 |
| NG_016397.1:g.92138C>T , LRG_643:g.92138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2052+4C>T MANE Select | ENSP00000370737.4:n.2052+4C>T | |
| ENST00000460457.2:n.212+4C>T | ||
| ENST00000638233.1:n.487+4C>T | ||
| ENST00000638661.1:c.252+4C>T | ENSP00000491369.1:n.252+4C>T | |
| ENST00000638694.1:n.239+4C>T | ||
| ENST00000639318.1:c.252+4C>T | ENSP00000491932.1:n.252+4C>T | |
| ENST00000639364.1:n.1752+4C>T | ||
| ENST00000639443.1:n.1620+4C>T | ||
| ENST00000639954.1:n.1760+4C>T | ||
| ENST00000640208.1:c.256C>T | ENSP00000491895.1:p.Leu86Phe | |
| ENST00000640505.1:n.291+4C>T | ||
| ENST00000640592.1:n.1939C>T | ||
| ENST00000321612.6:c.2052+4C>T | ENSP00000370737.3:n.2052+4C>T | |
| ENST00000460457.1:n.195C>T | ||
| NM_000170.2:c.2052+4C>T , LRG_643t1:c.2052+4C>T | NP_000161.2:n.2052+4C>T | |
| NM_000170.3:c.2052+4C>T MANE Select | NP_000161.2:n.2052+4C>T |