Linked Data
ClinVar Variation Id:
11461
ClinVar RCV Id:
RCV000012216
dbSNP Id:
rs137853329
PubMed:
PMID:12045264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154564408C>T , CM000685.2:g.154564408C>T | GRCh38 |
| NC_000023.10:g.153792623C>T , CM000685.1:g.153792623C>T | GRCh37 |
| NC_000023.9:g.153445817C>T | NCBI36 |
| NG_009896.1:g.27165C>T , LRG_70:g.27165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413620.6:c.1171C>T | ENSP00000398579.2:p.Gln391Ter | |
| ENST00000422680.6:c.1207C>T | ENSP00000390368.3:p.Gln403Ter | |
| ENST00000440286.6:c.1207C>T | ENSP00000394934.2:p.Gln403Ter | |
| ENST00000445622.6:c.1207C>T | ENSP00000395205.2:p.Gln403Ter | |
| ENST00000615186.5:c.805C>T | ENSP00000479144.2:p.Gln269Ter | |
| ENST00000689906.1:c.1054C>T | ENSP00000508630.1:p.Gln352Ter | |
| ENST00000692948.1:c.1264C>T | ENSP00000508773.1:p.Gln422Ter | |
| ENST00000594239.6:c.1207C>T MANE Select | ENSP00000471166.1:p.Gln403Ter | |
| ENST00000594239.5:c.1207C>T | ENSP00000471166.1:p.Gln403Ter | |
| ENST00000611071.4:c.1207C>T | ENSP00000479662.1:p.Gln403Ter | |
| ENST00000611176.4:c.910C>T | ENSP00000478616.1:p.Gln304Ter | |
| ENST00000612051.1:c.*1199C>T | ENSP00000480431.1:n.*1199C>T | |
| ENST00000615874.4:c.1183C>T | ENSP00000483381.1:p.Gln395Ter | |
| ENST00000617207.4:c.1204C>T | ENSP00000484023.1:p.Gln402Ter | |
| ENST00000618670.4:c.1411C>T | ENSP00000483825.1:p.Gln471Ter | |
| ENST00000619941.4:c.1186C>T | ENSP00000478979.1:p.Gln396Ter | |
| NM_001099856.3:c.1411C>T | NP_001093326.2:p.Gln471Ter | |
| NM_001099857.2:c.1207C>T | NP_001093327.1:p.Gln403Ter | |
| NM_001145255.2:c.910C>T | NP_001138727.1:p.Gln304Ter | |
| NM_003639.4:c.1207C>T | NP_003630.1:p.Gln403Ter | |
| XM_005274760.3:c.1408C>T | XP_005274817.1:p.Gln470Ter | |
| XM_005274761.3:c.1321+388C>T | XP_005274818.1:n.1321+388C>T | |
| XM_005274764.3:c.1204C>T | XP_005274821.1:p.Gln402Ter | |
| XM_011531203.1:c.1258C>T | XP_011529505.1:p.Gln420Ter | |
| XM_011531204.1:c.1207C>T | XP_011529506.1:p.Gln403Ter | |
| XM_011531205.1:c.1207C>T | XP_011529507.1:p.Gln403Ter | |
| NM_001099856.4:c.1411C>T | NP_001093326.2:p.Gln471Ter | |
| NM_001321396.1:c.1207C>T | NP_001308325.1:p.Gln403Ter | |
| NM_001321397.1:c.1204C>T | NP_001308326.1:p.Gln402Ter | |
| NM_001099856.6:c.1411C>T | NP_001093326.2:p.Gln471Ter | |
| NM_001099857.4:c.1207C>T | NP_001093327.1:p.Gln403Ter | |
| NM_001145255.4:c.910C>T | NP_001138727.1:p.Gln304Ter | |
| NM_001321396.3:c.1207C>T | NP_001308325.1:p.Gln403Ter | |
| NM_001321397.3:c.1204C>T | NP_001308326.1:p.Gln402Ter | |
| NM_001377312.1:c.1207C>T | NP_001364241.1:p.Gln403Ter | |
| NM_001377313.1:c.1204C>T | NP_001364242.1:p.Gln402Ter | |
| NM_001377314.1:c.1051C>T | NP_001364243.1:p.Gln351Ter | |
| NM_001377315.1:c.838C>T | NP_001364244.1:p.Gln280Ter | |
| NR_165197.1:n.1076C>T | ||
| NM_001099857.5:c.1207C>T MANE Select | NP_001093327.1:p.Gln403Ter |