Linked Data
ClinVar Variation Id:
1129981
ClinVar RCV Id:
RCV001463323
dbSNP Id:
rs2116244706
gnomAD v4:
7-92517612-T-A
MyVariant Identifiers:
chr7:g.92146926T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517612T>A , CM000669.2:g.92517612T>A | GRCh38 |
| NC_000007.13:g.92146926T>A , CM000669.1:g.92146926T>A | GRCh37 |
| NC_000007.12:g.91984862T>A | NCBI36 |
| NG_008341.1:g.15920A>T | |
| NG_008341.2:g.15920A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.903A>T MANE Select | ENSP00000248633.4:p.Ser301= | |
| ENST00000248633.8:c.903A>T | ENSP00000248633.4:p.Ser301= | |
| ENST00000428214.5:c.903A>T | ENSP00000394413.1:p.Ser301= | |
| ENST00000438045.5:c.274-3645A>T | ENSP00000410438.1:n.274-3645A>T | |
| ENST00000484913.5:n.942A>T | ||
| NM_000466.2:c.903A>T | NP_000457.1:p.Ser301= | |
| NM_001282677.1:c.903A>T | NP_001269606.1:p.Ser301= | |
| NM_001282678.1:c.279A>T | NP_001269607.1:p.Ser93= | |
| XR_242246.3:n.999A>T | ||
| XM_017012319.2:c.-764A>T | XP_016867808.1:n.-764A>T | |
| XR_001744808.2:n.13A>T | ||
| XR_242246.5:n.950A>T | ||
| NM_000466.3:c.903A>T MANE Select | NP_000457.1:p.Ser301= | |
| NM_001282677.2:c.903A>T | NP_001269606.1:p.Ser301= | |
| NM_001282678.2:c.279A>T | NP_001269607.1:p.Ser93= |