Linked Data
ClinVar Variation Id:
641342
dbSNP Id:
rs778197366
ExAC:
8:27320606 C / A
gnomAD v2:
8-27320606-C-A
gnomAD v4:
8-27463089-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27463089C>A , CM000670.2:g.27463089C>A | GRCh38 |
| NC_000008.10:g.27320606C>A , CM000670.1:g.27320606C>A | GRCh37 |
| NC_000008.9:g.27376523C>A | NCBI36 |
| NG_015827.1:g.21208G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407991.3:c.1354G>T MANE Select | ENSP00000385026.1:p.Glu452Ter | |
| ENST00000240132.7:c.1309G>T | ENSP00000240132.2:p.Glu437Ter | |
| ENST00000407991.2:c.1354G>T | ENSP00000385026.1:p.Glu452Ter | |
| ENST00000520600.1:n.290-1335G>T | ||
| ENST00000520933.7:c.1288G>T | ENSP00000429616.2:p.Glu430Ter | |
| ENST00000523695.5:c.*756G>T | ENSP00000430612.1:n.*756G>T | |
| NM_000742.3:c.1354G>T | NP_000733.2:p.Glu452Ter | |
| NM_001282455.1:c.1309G>T | NP_001269384.1:p.Glu437Ter | |
| XM_005273397.1:c.877G>T | XP_005273454.1:p.Glu293Ter | |
| XM_006716282.1:c.1354G>T | XP_006716345.1:p.Glu452Ter | |
| XM_011544388.1:c.1354G>T | XP_011542690.1:p.Glu452Ter | |
| XM_011544389.1:c.760G>T | XP_011542691.1:p.Glu254Ter | |
| NM_001347705.1:c.877G>T | NP_001334634.1:p.Glu293Ter | |
| NM_001347706.1:c.877G>T | NP_001334635.1:p.Glu293Ter | |
| NM_001347707.1:c.760G>T | NP_001334636.1:p.Glu254Ter | |
| NM_001347708.1:c.760G>T | NP_001334637.1:p.Glu254Ter | |
| XM_011544389.2:c.760G>T | XP_011542691.1:p.Glu254Ter | |
| NM_000742.4:c.1354G>T MANE Select | NP_000733.2:p.Glu452Ter | |
| NM_001282455.2:c.1309G>T | NP_001269384.1:p.Glu437Ter | |
| NM_001347705.2:c.877G>T | NP_001334634.1:p.Glu293Ter | |
| NM_001347706.2:c.877G>T | NP_001334635.1:p.Glu293Ter | |
| NM_001347707.2:c.760G>T | NP_001334636.1:p.Glu254Ter | |
| NM_001347708.2:c.760G>T | NP_001334637.1:p.Glu254Ter |