Linked Data
ClinVar Variation Id:
195697
dbSNP Id:
rs794727365
gnomAD v2:
4-79285209-G-A
gnomAD v4:
4-78364055-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78364055G>A , CM000666.2:g.78364055G>A | GRCh38 |
| NC_000004.11:g.79285209G>A , CM000666.1:g.79285209G>A | GRCh37 |
| NC_000004.10:g.79504233G>A | NCBI36 |
| NG_015812.1:g.311486G>A | |
| NG_015812.2:g.311486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.2722+1G>A | ENSP00000326330.6:n.2722+1G>A | |
| ENST00000682513.1:c.2722+1G>A | ENSP00000508201.1:n.2722+1G>A | |
| ENST00000684159.1:c.2722+1G>A | ENSP00000506875.1:n.2722+1G>A | |
| ENST00000512123.4:c.2722+1G>A MANE Select | ENSP00000422834.2:n.2722+1G>A | |
| ENST00000264899.10:c.845-80048G>A | ENSP00000264899.7:n.845-80048G>A | |
| ENST00000325942.10:c.2722+1G>A | ENSP00000326330.6:n.2722+1G>A | |
| ENST00000512123.3:c.2722+1G>A | ENSP00000422834.2:n.2722+1G>A | |
| NM_001166133.1:c.2722+1G>A | NP_001159605.1:n.2722+1G>A | |
| NM_025074.6:c.2722+1G>A | NP_079350.5:n.2722+1G>A | |
| XM_006714314.1:c.2722+1G>A | XP_006714377.1:n.2722+1G>A | |
| XM_006714316.1:c.2722+1G>A | XP_006714379.1:n.2722+1G>A | |
| XM_011532270.1:c.421+1G>A | XP_011530572.1:n.421+1G>A | |
| XM_006714316.3:c.2722+1G>A | XP_006714379.1:n.2722+1G>A | |
| NM_025074.7:c.2722+1G>A MANE Select | NP_079350.5:n.2722+1G>A | |
| NM_001166133.2:c.2722+1G>A | NP_001159605.1:n.2722+1G>A |