Linked Data
ClinVar Variation Id:
370115
ClinVar RCV Id:
RCV000411845
dbSNP Id:
rs780596734
ExAC:
4:52894267 T / C
gnomAD v2:
4-52894267-T-C
gnomAD v3:
4-52028101-T-C
gnomAD v4:
4-52028101-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028101T>C , CM000666.2:g.52028101T>C | GRCh38 |
| NC_000004.11:g.52894267T>C , CM000666.1:g.52894267T>C | GRCh37 |
| NC_000004.10:g.52589024T>C | NCBI36 |
| NG_008891.1:g.15219A>G , LRG_204:g.15219A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.622-2A>G MANE Select | ENSP00000370839.6:n.622-2A>G | |
| ENST00000381431.9:c.622-2A>G | ENSP00000370839.5:n.622-2A>G | |
| NM_000232.4:c.622-2A>G , LRG_204t1:c.622-2A>G | NP_000223.1:n.622-2A>G | |
| XM_006714049.2:c.325-2A>G | XP_006714112.1:n.325-2A>G | |
| XM_011534403.1:c.412-2A>G | XP_011532705.1:n.412-2A>G | |
| XM_011534404.1:c.325-2A>G | XP_011532706.1:n.325-2A>G | |
| NM_000232.5:c.622-2A>G MANE Select | NP_000223.1:n.622-2A>G |