Linked Data
ClinVar Variation Id:
287163
ClinVar RCV Id:
RCV000350813
dbSNP Id:
rs886043585
gnomAD v4:
9-72700546-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72700546T>C , CM000671.2:g.72700546T>C | GRCh38 |
| NC_000009.11:g.75315462T>C , CM000671.1:g.75315462T>C | GRCh37 |
| NC_000009.10:g.74505282T>C | NCBI36 |
| NG_008213.1:g.183746T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.265T>C MANE Select | ENSP00000297784.6:p.Leu89= | |
| ENST00000644967.1:c.-77+5832T>C | ENSP00000496159.1:n.-77+5832T>C | |
| ENST00000645053.1:c.-77+5832T>C | ENSP00000493838.1:n.-77+5832T>C | |
| ENST00000645208.2:c.265T>C | ENSP00000494684.1:p.Leu89= | |
| ENST00000645773.1:c.236+5832T>C | ENSP00000493698.1:n.236+5832T>C | |
| ENST00000645787.1:n.305T>C | ||
| ENST00000646244.1:n.715T>C | ||
| ENST00000646619.1:c.-77+5832T>C | ENSP00000493726.1:n.-77+5832T>C | |
| ENST00000650689.1:n.660+5832T>C | ||
| ENST00000651183.1:c.-77+5832T>C | ENSP00000498723.1:n.-77+5832T>C | |
| ENST00000297784.9:c.265T>C | ENSP00000297784.5:p.Leu89= | |
| ENST00000340019.4:c.265T>C | ENSP00000341433.3:p.Leu89= | |
| NM_138691.2:c.265T>C | NP_619636.2:p.Leu89= | |
| XM_011518213.1:c.853T>C | XP_011516515.1:p.Leu285= | |
| XM_017014256.1:c.268T>C | XP_016869745.1:p.Leu90= | |
| NM_138691.3:c.265T>C MANE Select | NP_619636.2:p.Leu89= |