Linked Data
ClinVar Variation Id:
2045542
ClinVar RCV Id:
RCV002900549
dbSNP Id:
rs939751807
gnomAD v4:
16-58531947-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58531947T>C , CM000678.2:g.58531947T>C | GRCh38 |
| NC_000016.9:g.58565851T>C , CM000678.1:g.58565851T>C | GRCh37 |
| NC_000016.8:g.57123352T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.6177+11A>G MANE Select | ENSP00000320949.5:n.6177+11A>G | |
| ENST00000245138.8:c.192+11A>G | ENSP00000245138.5:n.192+11A>G | |
| ENST00000317147.9:c.6177+11A>G | ENSP00000320949.5:n.6177+11A>G | |
| ENST00000563130.5:n.1052+11A>G | ||
| ENST00000567188.5:c.6162+11A>G | ENSP00000456649.1:n.6162+11A>G | |
| ENST00000569240.5:c.6162+11A>G | ENSP00000455635.1:n.6162+11A>G | |
| NM_001265612.1:c.6162+11A>G | NP_001252541.1:n.6162+11A>G | |
| NM_016284.4:c.6177+11A>G | NP_057368.3:n.6177+11A>G | |
| NR_049763.1:n.6495+11A>G | ||
| NM_016284.5:c.6177+11A>G MANE Select | NP_057368.3:n.6177+11A>G | |
| NM_001265612.2:c.6162+11A>G | NP_001252541.1:n.6162+11A>G | |
| NR_049763.2:n.6435+11A>G |