Linked Data
ClinVar Variation Id:
369659
ClinVar RCV Id:
RCV000408634
dbSNP Id:
rs1057516031
PubMed:
PMID:26938784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150598681G>T , CM000685.2:g.150598681G>T | GRCh38 |
| NC_000023.10:g.149767145G>T , CM000685.1:g.149767145G>T | GRCh37 |
| NC_000023.9:g.149517803G>T | NCBI36 |
| NG_008199.1:g.35099G>T , LRG_839:g.35099G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684910.1:c.136+2111G>T | ENSP00000509844.1:n.136+2111G>T | |
| ENST00000685439.1:c.-3-20357G>T | ENSP00000508454.1:n.-3-20357G>T | |
| ENST00000685944.1:c.226G>T | ENSP00000509266.1:p.Glu76Ter | |
| ENST00000687215.1:c.-60G>T | ENSP00000509706.1:n.-60G>T | |
| ENST00000687365.1:n.281G>T | ||
| ENST00000688152.1:c.226G>T | ENSP00000509360.1:p.Glu76Ter | |
| ENST00000688403.1:c.-301+29819G>T | ENSP00000508944.1:n.-301+29819G>T | |
| ENST00000689314.1:c.226G>T | ENSP00000510607.1:p.Glu76Ter | |
| ENST00000689694.1:c.226G>T | ENSP00000508718.1:p.Glu76Ter | |
| ENST00000689810.1:c.226G>T | ENSP00000510635.1:p.Glu76Ter | |
| ENST00000690282.1:c.-301+29963G>T | ENSP00000509809.1:n.-301+29963G>T | |
| ENST00000690351.1:c.136+2111G>T | ENSP00000509728.1:n.136+2111G>T | |
| ENST00000691232.1:c.-3-20357G>T | ENSP00000509675.1:n.-3-20357G>T | |
| ENST00000691686.1:c.226G>T | ENSP00000509784.1:p.Glu76Ter | |
| ENST00000691851.1:c.226G>T | ENSP00000510106.1:p.Glu76Ter | |
| ENST00000692015.1:c.226G>T | ENSP00000510634.1:p.Glu76Ter | |
| ENST00000692638.1:c.136+2111G>T | ENSP00000509412.1:n.136+2111G>T | |
| ENST00000692852.1:c.226G>T | ENSP00000510337.1:p.Glu76Ter | |
| ENST00000692915.1:c.226G>T | ENSP00000508547.1:p.Glu76Ter | |
| ENST00000693422.1:n.287G>T | ||
| ENST00000370396.7:c.226G>T MANE Select | ENSP00000359423.3:p.Glu76Ter | |
| ENST00000306167.11:n.259+6G>T | ||
| ENST00000370396.6:c.226G>T | ENSP00000359423.2:p.Glu76Ter | |
| ENST00000424519.1:c.226G>T | ENSP00000400699.1:p.Glu76Ter | |
| ENST00000490530.1:n.170+2111G>T | ||
| NM_000252.2:c.226G>T , LRG_839t1:c.226G>T | NP_000243.1:p.Glu76Ter | |
| XM_005274687.2:c.226G>T | XP_005274744.1:p.Glu76Ter | |
| XM_011531170.1:c.247G>T | XP_011529472.1:p.Glu83Ter | |
| XM_011531171.1:c.226G>T | XP_011529473.1:p.Glu76Ter | |
| XM_011531172.1:c.226G>T | XP_011529474.1:p.Glu76Ter | |
| XM_011531173.1:c.226G>T | XP_011529475.1:p.Glu76Ter | |
| XM_011531173.2:c.226G>T | XP_011529475.1:p.Glu76Ter | |
| XM_017029547.1:c.226G>T | XP_016885036.1:p.Glu76Ter | |
| XM_017029548.1:c.226G>T | XP_016885037.1:p.Glu76Ter | |
| XM_017029549.1:c.226G>T | XP_016885038.1:p.Glu76Ter | |
| XM_017029550.1:c.226G>T | XP_016885039.1:p.Glu76Ter | |
| NM_000252.3:c.226G>T MANE Select | NP_000243.1:p.Glu76Ter | |
| NM_001376906.1:c.226G>T | NP_001363835.1:p.Glu76Ter | |
| NM_001376907.1:c.226G>T | NP_001363836.1:p.Glu76Ter | |
| NM_001376908.1:c.226G>T | NP_001363837.1:p.Glu76Ter |