Linked Data
ClinVar Variation Id:
188795
dbSNP Id:
rs752907087
ExAC:
4:187197471 C / T
gnomAD v2:
4-187197471-C-T
gnomAD v4:
4-186276317-C-T
PubMed:
PMID:14717969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276317C>T , CM000666.2:g.186276317C>T | GRCh38 |
| NC_000004.11:g.187197471C>T , CM000666.1:g.187197471C>T | GRCh37 |
| NC_000004.10:g.187434465C>T | NCBI36 |
| NG_008051.1:g.15354C>T , LRG_583:g.15354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.682C>T MANE Select | ENSP00000384957.2:p.Arg228Ter | |
| ENST00000264692.8:c.520C>T | ENSP00000264692.5:p.Arg174Ter | |
| ENST00000403665.6:c.682C>T | ENSP00000384957.2:p.Arg228Ter | |
| ENST00000452239.1:c.129C>T | ||
| NM_000128.3:c.682C>T , LRG_583t1:c.682C>T | NP_000119.1:p.Arg228Ter | |
| XM_005262821.2:c.682C>T | XP_005262878.1:p.Arg228Ter | |
| XM_005262822.2:c.682C>T | XP_005262879.1:p.Arg228Ter | |
| XM_005262823.2:c.485+2042C>T | XP_005262880.1:n.485+2042C>T | |
| XM_005262824.1:c.682C>T | XP_005262881.1:p.Arg228Ter | |
| XM_006714137.1:c.682C>T | XP_006714200.1:p.Arg228Ter | |
| XR_938706.1:n.1034C>T | ||
| XR_938707.1:n.1034C>T | ||
| XM_005262821.4:c.682C>T | XP_005262878.1:p.Arg228Ter | |
| XM_005262822.4:c.682C>T | XP_005262879.1:p.Arg228Ter | |
| XM_005262823.4:c.485+2042C>T | XP_005262880.1:n.485+2042C>T | |
| XM_006714137.3:c.682C>T | XP_006714200.1:p.Arg228Ter | |
| XM_017007884.2:c.682C>T | XP_016863373.1:p.Arg228Ter | |
| XM_017007885.2:c.682C>T | XP_016863374.1:p.Arg228Ter | |
| XM_017007886.2:c.682C>T | XP_016863375.1:p.Arg228Ter | |
| XR_001741172.2:n.1015C>T | ||
| NM_000128.4:c.682C>T MANE Select | NP_000119.1:p.Arg228Ter |