Linked Data
ClinVar Variation Id:
217886
ClinVar RCV Id:
RCV000201941
RCV000789088
RCV002243881
RCV002051587
RCV002453731
RCV003407713
RCV003447123
dbSNP Id:
rs756614404
ExAC:
2:220146784 G / A
gnomAD v2:
2-220146784-G-A
gnomAD v3:
2-219282062-G-A
gnomAD v4:
2-219282062-G-A
PubMed:
PMID:22522442
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219282062G>A , CM000664.2:g.219282062G>A | GRCh38 |
| NC_000002.11:g.220146784G>A , CM000664.1:g.220146784G>A | GRCh37 |
| NC_000002.10:g.219855028G>A | NCBI36 |
| NG_029553.1:g.7745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683651.1:n.1055+1G>A | ||
| ENST00000684599.1:n.559+1G>A | ||
| ENST00000336576.10:c.352+1G>A MANE Select | ENSP00000338019.5:n.352+1G>A | |
| ENST00000336576.9:c.352+1G>A | ENSP00000338019.5:n.352+1G>A | |
| ENST00000392086.8:c.352+1G>A | ENSP00000375936.4:n.352+1G>A | |
| ENST00000392087.6:c.352+1G>A | ENSP00000375937.2:n.352+1G>A | |
| ENST00000421532.5:c.353G>A | ENSP00000395173.1:p.Gly118Asp | |
| ENST00000425450.5:c.352+1G>A | ENSP00000414796.1:n.352+1G>A | |
| ENST00000439026.1:c.352+1G>A | ENSP00000387951.1:n.352+1G>A | |
| ENST00000442681.5:c.352+1G>A | ENSP00000392790.1:n.352+1G>A | |
| ENST00000463463.5:n.343+1G>A | ||
| ENST00000477917.5:n.1570+1G>A | ||
| ENST00000480537.5:n.541G>A | ||
| ENST00000487855.1:n.252+1G>A | ||
| NM_001039550.1:c.352+1G>A | NP_001034639.1:n.352+1G>A | |
| NM_006736.5:c.352+1G>A | NP_006727.2:n.352+1G>A | |
| NM_001039550.2:c.352+1G>A | NP_001034639.1:n.352+1G>A | |
| NM_006736.6:c.352+1G>A MANE Select | NP_006727.2:n.352+1G>A |