Linked Data
ClinVar Variation Id:
1338935
ClinVar RCV Id:
RCV001823389
dbSNP Id:
rs76119846
gnomAD v2:
3-53158080-G-A
gnomAD v3:
3-53124064-G-A
gnomAD v4:
3-53124064-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53124064G>A , CM000665.2:g.53124064G>A | GRCh38 |
| NC_000003.11:g.53158080G>A , CM000665.1:g.53158080G>A | GRCh37 |
| NC_000003.10:g.53133120G>A | NCBI36 |
| NG_009203.1:g.11391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.150-224C>T MANE Select | ENSP00000296292.3:n.150-224C>T | |
| ENST00000296292.7:c.150-224C>T | ENSP00000296292.3:n.150-224C>T | |
| ENST00000394738.7:c.150-1501C>T | ENSP00000378223.3:n.150-1501C>T | |
| ENST00000467048.1:c.150-224C>T | ENSP00000420325.1:n.150-224C>T | |
| NM_052859.3:c.150-224C>T | NP_443091.1:n.150-224C>T | |
| XM_005265537.3:c.150-224C>T | XP_005265594.1:n.150-224C>T | |
| XM_006713384.2:c.150-224C>T | XP_006713447.1:n.150-224C>T | |
| XM_011534214.1:c.150-224C>T | XP_011532516.1:n.150-224C>T | |
| XM_011534215.1:c.150-224C>T | XP_011532517.1:n.150-224C>T | |
| XR_940507.1:n.209-224C>T | ||
| XM_005265537.4:c.150-224C>T | XP_005265594.1:n.150-224C>T | |
| XM_006713384.3:c.150-224C>T | XP_006713447.1:n.150-224C>T | |
| XM_011534214.2:c.150-224C>T | XP_011532516.1:n.150-224C>T | |
| XM_011534215.3:c.150-224C>T | XP_011532517.1:n.150-224C>T | |
| XM_011534216.3:c.-691-224C>T | XP_011532518.1:n.-691-224C>T | |
| XM_017007460.1:c.150-224C>T | XP_016862949.1:n.150-224C>T | |
| XM_017007461.2:c.-691-224C>T | XP_016862950.1:n.-691-224C>T | |
| XR_001740360.2:n.216-224C>T | ||
| NM_052859.4:c.150-224C>T MANE Select | NP_443091.1:n.150-224C>T |