Linked Data
ClinVar Variation Id:
3017759
ClinVar RCV Id:
RCV003874358
dbSNP Id:
rs1736925120
gnomAD v3:
4-177439562-A-G
gnomAD v4:
4-177439562-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439562A>G , CM000666.2:g.177439562A>G | GRCh38 |
| NC_000004.11:g.178360716A>G , CM000666.1:g.178360716A>G | GRCh37 |
| NC_000004.10:g.178597710A>G | NCBI36 |
| NG_011845.2:g.7942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.394+14T>C MANE Select | ENSP00000264595.2:n.394+14T>C | |
| ENST00000264595.6:c.394+14T>C | ENSP00000264595.2:n.394+14T>C | |
| ENST00000502310.5:c.49+14T>C | ENSP00000423798.1:n.49+14T>C | |
| ENST00000506853.5:n.428+14T>C | ||
| ENST00000510635.1:c.90+14T>C | ||
| ENST00000510955.5:n.316-705T>C | ||
| NM_000027.3:c.394+14T>C | NP_000018.2:n.394+14T>C | |
| NM_001171988.1:c.394+14T>C | NP_001165459.1:n.394+14T>C | |
| NR_033655.1:n.522+14T>C | ||
| XM_006714123.2:c.394+14T>C | XP_006714186.1:n.394+14T>C | |
| XR_001741155.2:n.488+14T>C | ||
| NM_000027.4:c.394+14T>C MANE Select | NP_000018.2:n.394+14T>C | |
| NM_001171988.2:c.394+14T>C | NP_001165459.1:n.394+14T>C | |
| NR_033655.2:n.456+14T>C |