Linked Data
ClinVar Variation Id:
1118
dbSNP Id:
rs121918330
ExAC:
3:39433004 C / T
gnomAD v2:
3-39433004-C-T
gnomAD v3:
3-39391513-C-T
gnomAD v4:
3-39391513-C-T
PubMed:
PMID:19412178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39391513C>T , CM000665.2:g.39391513C>T | GRCh38 |
| NC_000003.11:g.39433004C>T , CM000665.1:g.39433004C>T | GRCh37 |
| NC_000003.10:g.39408008C>T | NCBI36 |
| NG_016931.1:g.13190C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642683.1:c.301C>T | ENSP00000495376.1:p.Arg101Ter | |
| ENST00000643672.1:c.298C>T | ENSP00000494532.1:p.Arg100Ter | |
| ENST00000645280.1:c.295C>T | ENSP00000496690.1:p.Arg99Ter | |
| ENST00000645630.1:c.277-340C>T | ENSP00000493714.1:n.277-340C>T | |
| ENST00000648579.1:c.349C>T | ENSP00000497638.1:p.Arg117Ter | |
| ENST00000650617.1:c.349C>T MANE Select | ENSP00000497532.1:p.Arg117Ter | |
| ENST00000273158.8:c.349C>T | ENSP00000273158.3:p.Arg117Ter | |
| ENST00000431510.1:c.337C>T | ENSP00000394244.1:p.Arg113Ter | |
| NM_017875.2:c.349C>T | NP_060345.2:p.Arg117Ter | |
| XM_006713214.1:c.337C>T | XP_006713277.1:p.Arg113Ter | |
| XM_011533869.1:c.331C>T | XP_011532171.1:p.Arg111Ter | |
| XM_011533870.1:c.298C>T | XP_011532172.1:p.Arg100Ter | |
| XM_011533871.1:c.277-340C>T | XP_011532173.1:n.277-340C>T | |
| NM_001354798.1:c.349C>T | NP_001341727.1:p.Arg117Ter | |
| NM_017875.4:c.349C>T MANE Select | NP_060345.2:p.Arg117Ter | |
| XM_006713214.2:c.337C>T | XP_006713277.1:p.Arg113Ter | |
| XM_011533869.2:c.331C>T | XP_011532171.1:p.Arg111Ter | |
| XM_024453611.1:c.295C>T | XP_024309379.1:p.Arg99Ter | |
| NM_001354798.2:c.349C>T | NP_001341727.1:p.Arg117Ter |