Linked Data
ClinVar Variation Id:
2816
dbSNP Id:
rs730882180
gnomAD v2:
4-79393485-G-T
gnomAD v4:
4-78472331-G-T
PubMed:
PMID:17163535
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78472331G>T , CM000666.2:g.78472331G>T | GRCh38 |
| NC_000004.11:g.79393485G>T , CM000666.1:g.79393485G>T | GRCh37 |
| NC_000004.10:g.79612509G>T | NCBI36 |
| NG_015812.1:g.419762G>T | |
| NG_015812.2:g.419762G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7522+1G>T | ENSP00000508201.1:n.7522+1G>T | |
| ENST00000512123.4:c.7522+1G>T MANE Select | ENSP00000422834.2:n.7522+1G>T | |
| ENST00000512123.3:c.7522+1G>T | ENSP00000422834.2:n.7522+1G>T | |
| NM_025074.6:c.7522+1G>T | NP_079350.5:n.7522+1G>T | |
| XM_006714314.1:c.7516+1G>T | XP_006714377.1:n.7516+1G>T | |
| XM_006714316.1:c.7294+1G>T | XP_006714379.1:n.7294+1G>T | |
| XM_011532270.1:c.5221+1G>T | XP_011530572.1:n.5221+1G>T | |
| XM_011532271.1:c.2410+1G>T | XP_011530573.1:n.2410+1G>T | |
| XM_006714316.3:c.7294+1G>T | XP_006714379.1:n.7294+1G>T | |
| NM_025074.7:c.7522+1G>T MANE Select | NP_079350.5:n.7522+1G>T |