Linked Data
ClinVar Variation Id:
349784
dbSNP Id:
rs367680303
ExAC:
4:79429881 G / A
gnomAD v2:
4-79429881-G-A
gnomAD v3:
4-78508727-G-A
gnomAD v4:
4-78508727-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78508727G>A , CM000666.2:g.78508727G>A | GRCh38 |
| NC_000004.11:g.79429881G>A , CM000666.1:g.79429881G>A | GRCh37 |
| NC_000004.10:g.79648905G>A | NCBI36 |
| NG_015812.1:g.456158G>A | |
| NG_015812.2:g.456158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.9505-4G>A | ENSP00000508201.1:n.9505-4G>A | |
| ENST00000512123.4:c.9505-4G>A MANE Select | ENSP00000422834.2:n.9505-4G>A | |
| ENST00000512123.3:c.9505-4G>A | ENSP00000422834.2:n.9505-4G>A | |
| NM_025074.6:c.9505-4G>A | NP_079350.5:n.9505-4G>A | |
| XM_006714314.1:c.9499-4G>A | XP_006714377.1:n.9499-4G>A | |
| XM_006714316.1:c.9277-4G>A | XP_006714379.1:n.9277-4G>A | |
| XM_011532270.1:c.7204-4G>A | XP_011530572.1:n.7204-4G>A | |
| XM_011532271.1:c.4393-4G>A | XP_011530573.1:n.4393-4G>A | |
| XM_006714316.3:c.9277-4G>A | XP_006714379.1:n.9277-4G>A | |
| NM_025074.7:c.9505-4G>A MANE Select | NP_079350.5:n.9505-4G>A |