Linked Data
ClinVar Variation Id:
1601467
ClinVar RCV Id:
RCV002127269
dbSNP Id:
rs17376328
ExAC:
1:11876662 G / A
gnomAD v2:
1-11876662-G-A
gnomAD v3:
1-11816605-G-A
gnomAD v4:
1-11816605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11816605G>A , CM000663.2:g.11816605G>A | GRCh38 |
| NC_000001.10:g.11876662G>A , CM000663.1:g.11876662G>A | GRCh37 |
| NC_000001.9:g.11799249G>A | NCBI36 |
| NG_008766.1:g.15456G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346436.11:c.214-10G>A MANE Select | ENSP00000234488.9:n.214-10G>A | |
| ENST00000400892.3:c.214-10G>A | ENSP00000496938.1:n.214-10G>A | |
| ENST00000312413.10:c.148-10G>A | ENSP00000308367.7:n.148-10G>A | |
| ENST00000346436.10:c.214-10G>A | ENSP00000234488.9:n.214-10G>A | |
| ENST00000376490.7:n.214-10G>A | ||
| ENST00000376491.7:n.214-10G>A | ||
| ENST00000376492.3:n.214-10G>A | ||
| ENST00000376496.4:c.214-10G>A | ENSP00000365679.3:n.214-10G>A | |
| ENST00000376497.7:c.214-10G>A | ENSP00000365680.3:n.214-10G>A | |
| NM_001256959.1:c.148-10G>A | NP_001243888.1:n.148-10G>A | |
| NM_001286.3:c.214-10G>A | NP_001277.1:n.214-10G>A | |
| NR_046428.1:n.381-10G>A | ||
| NM_001286.4:c.214-10G>A | NP_001277.1:n.214-10G>A | |
| NM_001256959.2:c.148-10G>A | NP_001243888.2:n.148-10G>A | |
| NM_001286.5:c.214-10G>A MANE Select | NP_001277.2:n.214-10G>A | |
| NR_046428.2:n.286-10G>A |