Linked Data
ClinVar Variation Id:
2028
ClinVar RCV Id:
RCV000002106
dbSNP Id:
rs121434342
PubMed:
PMID:16400610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60836105G>T , CM000670.2:g.60836105G>T | GRCh38 |
| NC_000008.10:g.61748664G>T , CM000670.1:g.61748664G>T | GRCh37 |
| NC_000008.9:g.61911218G>T | NCBI36 |
| NG_007009.1:g.162326G>T , LRG_176:g.162326G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695853.1:c.3811G>T | ENSP00000512218.1:p.Glu1271Ter | |
| ENST00000423902.7:c.3811G>T MANE Select | ENSP00000392028.1:p.Glu1271Ter | |
| ENST00000423902.6:c.3811G>T | ENSP00000392028.1:p.Glu1271Ter | |
| ENST00000524602.5:c.1717-26124G>T | ENSP00000437061.1:n.1717-26124G>T | |
| NM_001316690.1:c.1717-26124G>T | NP_001303619.1:n.1717-26124G>T | |
| NM_017780.3:c.3811G>T | NP_060250.2:p.Glu1271Ter | |
| XM_011517553.1:c.3811G>T | XP_011515855.1:p.Glu1271Ter | |
| XM_011517554.1:c.3811G>T | XP_011515856.1:p.Glu1271Ter | |
| XM_011517555.1:c.3811G>T | XP_011515857.1:p.Glu1271Ter | |
| XM_011517556.1:c.3811G>T | XP_011515858.1:p.Glu1271Ter | |
| XM_011517557.1:c.1798G>T | XP_011515859.1:p.Glu600Ter | |
| XM_011517558.1:c.1348G>T | XP_011515860.1:p.Glu450Ter | |
| XM_011517559.1:c.556G>T | XP_011515861.1:p.Glu186Ter | |
| XM_011517560.1:c.3811G>T | XP_011515862.1:p.Glu1271Ter | |
| XM_011517553.2:c.3811G>T | XP_011515855.1:p.Glu1271Ter | |
| XM_011517554.3:c.3811G>T | XP_011515856.1:p.Glu1271Ter | |
| XM_011517555.2:c.3811G>T | XP_011515857.1:p.Glu1271Ter | |
| XM_011517560.2:c.3811G>T | XP_011515862.1:p.Glu1271Ter | |
| XM_017013612.1:c.3811G>T | XP_016869101.1:p.Glu1271Ter | |
| XM_017013613.1:c.3811G>T | XP_016869102.1:p.Glu1271Ter | |
| NM_017780.4:c.3811G>T MANE Select | NP_060250.2:p.Glu1271Ter |