Linked Data
ClinVar Variation Id:
268055
ClinVar RCV Id:
RCV000258806
dbSNP Id:
rs886041053
gnomAD v4:
4-183686751-A-G
PubMed:
PMID:27707803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183686751A>G , CM000666.2:g.183686751A>G | GRCh38 |
| NC_000004.11:g.184607904A>G , CM000666.1:g.184607904A>G | GRCh37 |
| NC_000004.10:g.184844898A>G | NCBI36 |
| NG_033102.1:g.32485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334690.11:c.1893+3A>G MANE Select | ENSP00000335371.6:n.1893+3A>G | |
| ENST00000334690.10:c.1893+3A>G | ENSP00000335371.6:n.1893+3A>G | |
| ENST00000357207.8:c.1893+3A>G | ENSP00000349738.4:n.1893+3A>G | |
| ENST00000505676.5:c.*7+3A>G | ENSP00000422915.1:n.*7+3A>G | |
| ENST00000512476.1:c.711+3A>G | ENSP00000421004.1:n.711+3A>G | |
| NM_021942.5:c.1893+3A>G | NP_068761.4:n.1893+3A>G | |
| NM_199053.2:c.1893+3A>G | NP_951008.1:n.1893+3A>G | |
| XM_011532180.1:c.1893+3A>G | XP_011530482.1:n.1893+3A>G | |
| XM_017008537.2:c.1893+3A>G | XP_016864026.1:n.1893+3A>G | |
| XM_017008538.2:c.1893+3A>G | XP_016864027.1:n.1893+3A>G | |
| XM_024454179.1:c.1893+3A>G | XP_024309947.1:n.1893+3A>G | |
| XM_024454180.1:c.1893+3A>G | XP_024309948.1:n.1893+3A>G | |
| XM_024454181.1:c.543+3A>G | XP_024309949.1:n.543+3A>G | |
| XR_001741315.2:n.2085+3A>G | ||
| NM_021942.6:c.1893+3A>G MANE Select | NP_068761.4:n.1893+3A>G | |
| NM_199053.3:c.1893+3A>G | NP_951008.1:n.1893+3A>G |