Linked Data
ClinVar Variation Id:
2735276
ClinVar RCV Id:
RCV003557446
dbSNP Id:
rs1295277804
gnomAD v2:
9-75315444-G-T
gnomAD v3:
9-72700528-G-T
gnomAD v4:
9-72700528-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72700528G>T , CM000671.2:g.72700528G>T | GRCh38 |
| NC_000009.11:g.75315444G>T , CM000671.1:g.75315444G>T | GRCh37 |
| NC_000009.10:g.74505264G>T | NCBI36 |
| NG_008213.1:g.183728G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.247G>T MANE Select | ENSP00000297784.6:p.Glu83Ter | |
| ENST00000644967.1:c.-77+5814G>T | ENSP00000496159.1:n.-77+5814G>T | |
| ENST00000645053.1:c.-77+5814G>T | ENSP00000493838.1:n.-77+5814G>T | |
| ENST00000645208.2:c.247G>T | ENSP00000494684.1:p.Glu83Ter | |
| ENST00000645773.1:c.236+5814G>T | ENSP00000493698.1:n.236+5814G>T | |
| ENST00000645787.1:n.287G>T | ||
| ENST00000646244.1:n.697G>T | ||
| ENST00000646619.1:c.-77+5814G>T | ENSP00000493726.1:n.-77+5814G>T | |
| ENST00000650689.1:n.660+5814G>T | ||
| ENST00000651183.1:c.-77+5814G>T | ENSP00000498723.1:n.-77+5814G>T | |
| ENST00000297784.9:c.247G>T | ENSP00000297784.5:p.Glu83Ter | |
| ENST00000340019.4:c.247G>T | ENSP00000341433.3:p.Glu83Ter | |
| NM_138691.2:c.247G>T | NP_619636.2:p.Glu83Ter | |
| XM_011518213.1:c.835G>T | XP_011516515.1:p.Glu279Ter | |
| XM_017014256.1:c.250G>T | XP_016869745.1:p.Glu84Ter | |
| NM_138691.3:c.247G>T MANE Select | NP_619636.2:p.Glu83Ter |