Linked Data
ClinVar Variation Id:
2779426
ClinVar RCV Id:
RCV003663606
dbSNP Id:
rs1318364193
gnomAD v4:
9-72820999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820999C>T , CM000671.2:g.72820999C>T | GRCh38 |
| NC_000009.11:g.75435915C>T , CM000671.1:g.75435915C>T | GRCh37 |
| NC_000009.10:g.74625735C>T | NCBI36 |
| NG_008213.1:g.304199C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1921C>T MANE Select | ENSP00000297784.6:p.Leu641= | |
| ENST00000644967.1:c.*361C>T | ENSP00000496159.1:n.*361C>T | |
| ENST00000645053.1:c.1258-5870C>T | ENSP00000493838.1:n.1258-5870C>T | |
| ENST00000645208.2:c.1921C>T | ENSP00000494684.1:p.Leu641= | |
| ENST00000645773.1:c.1795C>T | ENSP00000493698.1:p.Leu599= | |
| ENST00000645787.1:n.2064C>T | ||
| ENST00000646619.1:c.1483C>T | ENSP00000493726.1:p.Leu495= | |
| ENST00000651183.1:c.1483C>T | ENSP00000498723.1:p.Leu495= | |
| ENST00000297784.9:c.1921C>T | ENSP00000297784.5:p.Leu641= | |
| ENST00000340019.4:c.1921C>T | ENSP00000341433.3:p.Leu641= | |
| ENST00000469455.1:n.402C>T | ||
| ENST00000486417.5:n.819C>T | ||
| NM_138691.2:c.1921C>T | NP_619636.2:p.Leu641= | |
| XM_011518213.1:c.2509C>T | XP_011516515.1:p.Leu837= | |
| XM_017014256.1:c.1924C>T | XP_016869745.1:p.Leu642= | |
| NM_138691.3:c.1921C>T MANE Select | NP_619636.2:p.Leu641= |