Linked Data
ClinVar Variation Id:
1958165
ClinVar RCV Id:
RCV002695871
dbSNP Id:
rs1459945227
gnomAD v3:
3-150972646-G-A
gnomAD v4:
3-150972646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972646G>A , CM000665.2:g.150972646G>A | GRCh38 |
| NC_000003.11:g.150690433G>A , CM000665.1:g.150690433G>A | GRCh37 |
| NC_000003.10:g.152173123G>A | NCBI36 |
| NG_009168.1:g.5354C>T , LRG_700:g.5354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.63C>T MANE Select | ENSP00000322280.1:p.Ala21= | |
| ENST00000468836.2:c.39C>T | ENSP00000419892.2:p.Ala13= | |
| ENST00000327047.5:c.63C>T | ENSP00000322280.1:p.Ala21= | |
| ENST00000328863.8:c.63C>T | ENSP00000329158.4:p.Ala21= | |
| ENST00000468836.1:c.-338C>T | ENSP00000419892.1:n.-338C>T | |
| ENST00000472224.1:n.69C>T | ||
| NM_001195794.1:c.63C>T , LRG_700t1:c.63C>T | NP_001182723.1:p.Ala21= | |
| NM_001256819.1:c.63C>T | NP_001243748.1:p.Ala21= | |
| NM_174878.2:c.63C>T | NP_777367.1:p.Ala21= | |
| NR_046380.2:n.354C>T | ||
| XR_924167.1:n.375C>T | ||
| NM_001256819.2:c.63C>T | NP_001243748.1:p.Ala21= | |
| NM_174878.3:c.63C>T MANE Select | NP_777367.1:p.Ala21= | |
| NR_046380.3:n.82C>T |