Linked Data
ClinVar Variation Id:
1018391
ClinVar RCV Id:
RCV001317685
dbSNP Id:
rs763218526
ExAC:
7:92151426 T / A
gnomAD v2:
7-92151426-T-A
gnomAD v3:
7-92522112-T-A
gnomAD v4:
7-92522112-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522112T>A , CM000669.2:g.92522112T>A | GRCh38 |
| NC_000007.13:g.92151426T>A , CM000669.1:g.92151426T>A | GRCh37 |
| NC_000007.12:g.91989362T>A | NCBI36 |
| NG_008341.1:g.11420A>T | |
| NG_008341.2:g.11420A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.263A>T MANE Select | ENSP00000248633.4:p.Asn88Ile | |
| ENST00000248633.8:c.263A>T | ENSP00000248633.4:p.Asn88Ile | |
| ENST00000428214.5:c.263A>T | ENSP00000394413.1:p.Asn88Ile | |
| ENST00000438045.5:c.263A>T | ENSP00000410438.1:p.Asn88Ile | |
| ENST00000484913.5:n.267A>T | ||
| NM_000466.2:c.263A>T | NP_000457.1:p.Asn88Ile | |
| NM_001282677.1:c.263A>T | NP_001269606.1:p.Asn88Ile | |
| NM_001282678.1:c.-397A>T | NP_001269607.1:n.-397A>T | |
| XR_242246.3:n.359A>T | ||
| XR_242246.5:n.310A>T | ||
| NM_000466.3:c.263A>T MANE Select | NP_000457.1:p.Asn88Ile | |
| NM_001282677.2:c.263A>T | NP_001269606.1:p.Asn88Ile | |
| NM_001282678.2:c.-397A>T | NP_001269607.1:n.-397A>T |