Linked Data
ClinVar Variation Id:
56064
ClinVar RCV Id:
RCV000049473
dbSNP Id:
rs386833545
gnomAD v2:
9-6554783-T-C
gnomAD v4:
9-6554783-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6554783T>C , CM000671.2:g.6554783T>C | GRCh38 |
| NC_000009.11:g.6554783T>C , CM000671.1:g.6554783T>C | GRCh37 |
| NC_000009.10:g.6544783T>C | NCBI36 |
| NG_016397.1:g.95910A>G , LRG_643:g.95910A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2203-2A>G MANE Select | ENSP00000370737.4:n.2203-2A>G | |
| ENST00000638233.1:n.638-2A>G | ||
| ENST00000638661.1:c.403-2A>G | ENSP00000491369.1:n.403-2A>G | |
| ENST00000638694.1:n.390-2A>G | ||
| ENST00000639318.1:c.403-2A>G | ENSP00000491932.1:n.403-2A>G | |
| ENST00000639364.1:n.1903-2A>G | ||
| ENST00000639443.1:n.1771-2A>G | ||
| ENST00000639639.1:c.-98A>G | ENSP00000491312.1:n.-98A>G | |
| ENST00000639954.1:n.1911-2A>G | ||
| ENST00000640505.1:n.442-2A>G | ||
| ENST00000321612.6:c.2203-2A>G | ENSP00000370737.3:n.2203-2A>G | |
| ENST00000467946.1:n.127A>G | ||
| NM_000170.2:c.2203-2A>G , LRG_643t1:c.2203-2A>G | NP_000161.2:n.2203-2A>G | |
| NM_000170.3:c.2203-2A>G MANE Select | NP_000161.2:n.2203-2A>G |