Linked Data
ClinVar Variation Id:
1356733
ClinVar RCV Id:
RCV001870245
dbSNP Id:
rs540780825
gnomAD v2:
7-92146688-C-A
gnomAD v4:
7-92517374-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517374C>A , CM000669.2:g.92517374C>A | GRCh38 |
| NC_000007.13:g.92146688C>A , CM000669.1:g.92146688C>A | GRCh37 |
| NC_000007.12:g.91984624C>A | NCBI36 |
| NG_008341.1:g.16158G>T | |
| NG_008341.2:g.16158G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1141G>T MANE Select | ENSP00000248633.4:p.Ala381Ser | |
| ENST00000248633.8:c.1141G>T | ENSP00000248633.4:p.Ala381Ser | |
| ENST00000422866.1:c.42G>T | ||
| ENST00000428214.5:c.1141G>T | ENSP00000394413.1:p.Ala381Ser | |
| ENST00000438045.5:c.274-3407G>T | ENSP00000410438.1:n.274-3407G>T | |
| ENST00000484913.5:n.1180G>T | ||
| NM_000466.2:c.1141G>T | NP_000457.1:p.Ala381Ser | |
| NM_001282677.1:c.1141G>T | NP_001269606.1:p.Ala381Ser | |
| NM_001282678.1:c.517G>T | NP_001269607.1:p.Ala173Ser | |
| XR_242246.3:n.1237G>T | ||
| XM_017012319.2:c.-526G>T | XP_016867808.1:n.-526G>T | |
| XR_001744808.2:n.251G>T | ||
| XR_242246.5:n.1188G>T | ||
| NM_000466.3:c.1141G>T MANE Select | NP_000457.1:p.Ala381Ser | |
| NM_001282677.2:c.1141G>T | NP_001269606.1:p.Ala381Ser | |
| NM_001282678.2:c.517G>T | NP_001269607.1:p.Ala173Ser |