Linked Data
ClinVar Variation Id:
30986
dbSNP Id:
rs373145711
ExAC:
20:31021211 C / T
gnomAD v2:
20-31021211-C-T
gnomAD v3:
20-32433408-C-T
gnomAD v4:
20-32433408-C-T
PubMed:
PMID:21706002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32433408C>T , CM000682.2:g.32433408C>T | GRCh38 |
| NC_000020.10:g.31021211C>T , CM000682.1:g.31021211C>T | GRCh37 |
| NC_000020.9:g.30484872C>T | NCBI36 |
| NG_027868.1:g.80065C>T , LRG_630:g.80065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.1210C>T MANE Select | ENSP00000364839.4:p.Arg404Ter | |
| ENST00000644168.1:n.752C>T | ||
| ENST00000646985.1:c.1027C>T | ENSP00000495053.1:p.Arg343Ter | |
| ENST00000647223.1:n.3049C>T | ||
| ENST00000651418.1:c.1210C>T | ENSP00000499150.1:p.Arg404Ter | |
| ENST00000306058.9:c.1195C>T | ENSP00000305119.5:p.Arg399Ter | |
| ENST00000375687.8:c.1210C>T | ENSP00000364839.4:p.Arg404Ter | |
| ENST00000553345.5:n.807C>T | ||
| ENST00000613218.4:c.1210C>T | ENSP00000480487.1:p.Arg404Ter | |
| ENST00000620121.4:c.1210C>T | ENSP00000481978.1:p.Arg404Ter | |
| NM_015338.5:c.1210C>T , LRG_630t1:c.1210C>T | NP_056153.2:p.Arg404Ter | |
| XM_006723727.2:c.1207C>T | XP_006723790.1:p.Arg403Ter | |
| XM_006723728.2:c.1180C>T | XP_006723791.1:p.Arg394Ter | |
| XM_006723730.2:c.1126C>T | XP_006723793.1:p.Arg376Ter | |
| XM_006723732.2:c.1027C>T | XP_006723795.1:p.Arg343Ter | |
| XM_006723733.1:c.526C>T | XP_006723796.1:p.Arg176Ter | |
| XM_011528647.1:c.1474C>T | XP_011526949.1:p.Arg492Ter | |
| XM_011528648.1:c.1471C>T | XP_011526950.1:p.Arg491Ter | |
| XM_011528649.1:c.1390C>T | XP_011526951.1:p.Arg464Ter | |
| XM_011528650.1:c.1321C>T | XP_011526952.1:p.Arg441Ter | |
| XM_011528651.1:c.1189C>T | XP_011526953.1:p.Arg397Ter | |
| XM_011528652.1:c.1126C>T | XP_011526954.1:p.Arg376Ter | |
| NM_001363734.1:c.1027C>T | NP_001350663.1:p.Arg343Ter | |
| XM_006723727.3:c.1207C>T | XP_006723790.1:p.Arg403Ter | |
| XM_006723728.3:c.1180C>T | XP_006723791.1:p.Arg394Ter | |
| XM_006723730.4:c.1126C>T | XP_006723793.1:p.Arg376Ter | |
| XM_011528648.3:c.1471C>T | XP_011526950.1:p.Arg491Ter | |
| XM_011528652.2:c.1126C>T | XP_011526954.1:p.Arg376Ter | |
| XM_017027704.1:c.1126C>T | XP_016883193.1:p.Arg376Ter | |
| XM_017027705.1:c.1126C>T | XP_016883194.1:p.Arg376Ter | |
| XM_017027706.1:c.1057C>T | XP_016883195.1:p.Arg353Ter | |
| NM_015338.6:c.1210C>T MANE Select | NP_056153.2:p.Arg404Ter |