Linked Data
ClinVar Variation Id:
2962711
ClinVar RCV Id:
RCV003827821
dbSNP Id:
rs746329878
ExAC:
9:75435839 C / T
gnomAD v2:
9-75435839-C-T
gnomAD v3:
9-72820923-C-T
gnomAD v4:
9-72820923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820923C>T , CM000671.2:g.72820923C>T | GRCh38 |
| NC_000009.11:g.75435839C>T , CM000671.1:g.75435839C>T | GRCh37 |
| NC_000009.10:g.74625659C>T | NCBI36 |
| NG_008213.1:g.304123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1845C>T MANE Select | ENSP00000297784.6:p.Ala615= | |
| ENST00000644967.1:c.*285C>T | ENSP00000496159.1:n.*285C>T | |
| ENST00000645053.1:c.1258-5946C>T | ENSP00000493838.1:n.1258-5946C>T | |
| ENST00000645208.2:c.1845C>T | ENSP00000494684.1:p.Ala615= | |
| ENST00000645773.1:c.1719C>T | ENSP00000493698.1:p.Ala573= | |
| ENST00000645787.1:n.1988C>T | ||
| ENST00000646619.1:c.1407C>T | ENSP00000493726.1:p.Ala469= | |
| ENST00000651183.1:c.1407C>T | ENSP00000498723.1:p.Ala469= | |
| ENST00000297784.9:c.1845C>T | ENSP00000297784.5:p.Ala615= | |
| ENST00000340019.4:c.1845C>T | ENSP00000341433.3:p.Ala615= | |
| ENST00000469455.1:n.326C>T | ||
| ENST00000486417.5:n.743C>T | ||
| NM_138691.2:c.1845C>T | NP_619636.2:p.Ala615= | |
| XM_011518213.1:c.2433C>T | XP_011516515.1:p.Ala811= | |
| XM_017014256.1:c.1848C>T | XP_016869745.1:p.Ala616= | |
| NM_138691.3:c.1845C>T MANE Select | NP_619636.2:p.Ala615= |