Linked Data
ClinVar Variation Id:
1664901
dbSNP Id:
rs769925670
ExAC:
7:92131367 A / G
gnomAD v2:
7-92131367-A-G
gnomAD v4:
7-92502053-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92502053A>G , CM000669.2:g.92502053A>G | GRCh38 |
| NC_000007.13:g.92131367A>G , CM000669.1:g.92131367A>G | GRCh37 |
| NC_000007.12:g.91969303A>G | NCBI36 |
| NG_008341.1:g.31479T>C | |
| NG_008341.2:g.31479T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2253T>C MANE Select | ENSP00000248633.4:p.Asn751= | |
| ENST00000248633.8:c.2253T>C | ENSP00000248633.4:p.Asn751= | |
| ENST00000428214.5:c.2082T>C | ENSP00000394413.1:p.Asn694= | |
| ENST00000438045.5:c.1287T>C | ENSP00000410438.1:p.Asn429= | |
| ENST00000484913.5:n.2292T>C | ||
| ENST00000496092.1:n.51T>C | ||
| ENST00000496420.5:n.1929T>C | ||
| NM_000466.2:c.2253T>C | NP_000457.1:p.Asn751= | |
| NM_001282677.1:c.2082T>C | NP_001269606.1:p.Asn694= | |
| NM_001282678.1:c.1629T>C | NP_001269607.1:p.Asn543= | |
| XM_005250433.3:c.504T>C | XP_005250490.1:p.Asn168= | |
| XR_242246.3:n.2349T>C | ||
| XM_017012319.2:c.504T>C | XP_016867808.1:p.Asn168= | |
| XR_001744808.2:n.1280T>C | ||
| XR_242246.5:n.2300T>C | ||
| NM_000466.3:c.2253T>C MANE Select | NP_000457.1:p.Asn751= | |
| NM_001282677.2:c.2082T>C | NP_001269606.1:p.Asn694= | |
| NM_001282678.2:c.1629T>C | NP_001269607.1:p.Asn543= |