Linked Data
ClinVar Variation Id:
449563
dbSNP Id:
rs770505620
ExAC:
4:187201251 C / T
gnomAD v2:
4-187201251-C-T
gnomAD v3:
4-186280097-C-T
gnomAD v4:
4-186280097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280097C>T , CM000666.2:g.186280097C>T | GRCh38 |
| NC_000004.11:g.187201251C>T , CM000666.1:g.187201251C>T | GRCh37 |
| NC_000004.10:g.187438245C>T | NCBI36 |
| NG_008051.1:g.19134C>T , LRG_583:g.19134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.841C>T MANE Select | ENSP00000384957.2:p.Gln281Ter | |
| ENST00000264692.8:c.679C>T | ENSP00000264692.5:p.Gln227Ter | |
| ENST00000403665.6:c.841C>T | ENSP00000384957.2:p.Gln281Ter | |
| ENST00000452239.1:c.288C>T | ||
| NM_000128.3:c.841C>T , LRG_583t1:c.841C>T | NP_000119.1:p.Gln281Ter | |
| XM_005262821.2:c.841C>T | XP_005262878.1:p.Gln281Ter | |
| XM_005262822.2:c.841C>T | XP_005262879.1:p.Gln281Ter | |
| XM_005262823.2:c.571C>T | XP_005262880.1:p.Gln191Ter | |
| XM_005262824.1:c.841C>T | XP_005262881.1:p.Gln281Ter | |
| XM_006714137.1:c.841C>T | XP_006714200.1:p.Gln281Ter | |
| XR_938706.1:n.1193C>T | ||
| XR_938707.1:n.1193C>T | ||
| XM_005262821.4:c.841C>T | XP_005262878.1:p.Gln281Ter | |
| XM_005262822.4:c.841C>T | XP_005262879.1:p.Gln281Ter | |
| XM_005262823.4:c.571C>T | XP_005262880.1:p.Gln191Ter | |
| XM_006714137.3:c.841C>T | XP_006714200.1:p.Gln281Ter | |
| XM_017007884.2:c.841C>T | XP_016863373.1:p.Gln281Ter | |
| XM_017007885.2:c.841C>T | XP_016863374.1:p.Gln281Ter | |
| XM_017007886.2:c.841C>T | XP_016863375.1:p.Gln281Ter | |
| XR_001741172.2:n.1174C>T | ||
| NM_000128.4:c.841C>T MANE Select | NP_000119.1:p.Gln281Ter |