Linked Data
ClinVar Variation Id:
3035734
ClinVar RCV Id:
RCV003912149
dbSNP Id:
rs376280813
ExAC:
12:66603310 G / A
gnomAD v2:
12-66603310-G-A
gnomAD v3:
12-66209530-G-A
gnomAD v4:
12-66209530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66209530G>A , CM000674.2:g.66209530G>A | GRCh38 |
| NC_000012.11:g.66603310G>A , CM000674.1:g.66603310G>A | GRCh37 |
| NC_000012.10:g.64889577G>A | NCBI36 |
| NG_021194.1:g.25333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.381+10G>A MANE Select | ENSP00000261233.4:n.381+10G>A | |
| ENST00000261233.8:c.381+10G>A | ENSP00000261233.4:n.381+10G>A | |
| ENST00000457197.2:c.198+10G>A | ENSP00000409852.2:n.198+10G>A | |
| NM_001142523.1:c.198+10G>A | NP_001135995.1:n.198+10G>A | |
| NM_007199.2:c.381+10G>A | NP_009130.2:n.381+10G>A | |
| NM_001142523.2:c.198+10G>A | NP_001135995.1:n.198+10G>A | |
| NM_007199.3:c.381+10G>A MANE Select | NP_009130.2:n.381+10G>A |