Linked Data
ClinVar Variation Id:
1639811
ClinVar RCV Id:
RCV002129302
dbSNP Id:
rs2069811717
gnomAD v4:
8-19939537-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939537T>C , CM000670.2:g.19939537T>C | GRCh38 |
| NC_000008.10:g.19797048T>C , CM000670.1:g.19797048T>C | GRCh37 |
| NC_000008.9:g.19841328T>C | NCBI36 |
| NG_008855.1:g.5467T>C | |
| NG_008855.2:g.42821T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.88+9T>C MANE Select | ENSP00000497642.1:n.88+9T>C | |
| ENST00000311322.8:c.88+9T>C | ENSP00000309757.6:n.88+9T>C | |
| ENST00000519773.1:c.88+9T>C | ENSP00000431028.1:n.88+9T>C | |
| ENST00000520959.5:c.-140-8643T>C | ENSP00000428496.1:n.-140-8643T>C | |
| ENST00000521994.1:n.273+9T>C | ||
| ENST00000522701.5:c.88+9T>C | ENSP00000428557.1:n.88+9T>C | |
| ENST00000523696.1:n.157+9T>C | ||
| ENST00000524029.5:c.88+9T>C | ENSP00000428237.1:n.88+9T>C | |
| NM_000237.2:c.88+9T>C | NP_000228.1:n.88+9T>C | |
| NM_000237.3:c.88+9T>C MANE Select | NP_000228.1:n.88+9T>C |