Linked Data
ClinVar Variation Id:
14291
dbSNP Id:
rs121913571
gnomAD v2:
6-129837376-C-T
gnomAD v4:
6-129516231-C-T
PubMed:
PMID:11591858
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129516231C>T , CM000668.2:g.129516231C>T | GRCh38 |
| NC_000006.11:g.129837376C>T , CM000668.1:g.129837376C>T | GRCh37 |
| NC_000006.10:g.129879069C>T | NCBI36 |
| NG_008678.1:g.638091C>T , LRG_409:g.638091C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494137.2:c.1318C>T | ENSP00000510626.1:p.Arg440Ter | |
| ENST00000498257.6:c.1318C>T | ENSP00000510533.1:p.Arg440Ter | |
| ENST00000617695.5:c.9241C>T | ENSP00000481744.2:p.Arg3081Ter | |
| ENST00000618192.5:c.9517C>T | ENSP00000480802.2:p.Arg3173Ter | |
| ENST00000688198.1:n.2231C>T | ||
| ENST00000688799.1:c.1318C>T | ENSP00000508458.1:p.Arg440Ter | |
| ENST00000690858.1:n.4126C>T | ||
| ENST00000693461.1:n.1590C>T | ||
| ENST00000421865.3:c.9253C>T MANE Select | ENSP00000400365.2:p.Arg3085Ter | |
| ENST00000421865.2:c.9253C>T | ENSP00000400365.2:p.Arg3085Ter | |
| ENST00000617695.4:c.9241C>T | ENSP00000481744.1:p.Arg3081Ter | |
| ENST00000618192.4:c.9250C>T | ENSP00000480802.1:p.Arg3084Ter | |
| NM_000426.3:c.9253C>T , LRG_409t1:c.9253C>T | NP_000417.2:p.Arg3085Ter | |
| NM_001079823.1:c.9241C>T | NP_001073291.1:p.Arg3081Ter | |
| XM_005266981.2:c.9517C>T | XP_005267038.1:p.Arg3173Ter | |
| XM_005266982.2:c.9505C>T | XP_005267039.1:p.Arg3169Ter | |
| XM_011535820.1:c.9511C>T | XP_011534122.1:p.Arg3171Ter | |
| XR_942984.1:n.1460+6246G>A | ||
| XR_942985.1:n.1324+6246G>A | ||
| XM_005266981.3:c.9517C>T | XP_005267038.1:p.Arg3173Ter | |
| XM_005266982.3:c.9505C>T | XP_005267039.1:p.Arg3169Ter | |
| XM_011535820.2:c.9511C>T | XP_011534122.1:p.Arg3171Ter | |
| XM_017010851.2:c.9523C>T | XP_016866340.1:p.Arg3175Ter | |
| XM_017010852.1:c.7648C>T | XP_016866341.1:p.Arg2550Ter | |
| XR_001743859.1:n.3900+6246G>A | ||
| XR_001743860.1:n.1179+6246G>A | ||
| XR_001743861.1:n.1346+6246G>A | ||
| XR_001743863.1:n.883-13440G>A | ||
| XR_002956395.1:n.9131+6246G>A | ||
| XR_002956396.1:n.3126+6246G>A | ||
| NM_000426.4:c.9253C>T MANE Select | NP_000417.3:p.Arg3085Ter | |
| NM_001079823.2:c.9241C>T | NP_001073291.2:p.Arg3081Ter |