Linked Data
ClinVar Variation Id:
225894
ClinVar RCV Id:
RCV000211113
dbSNP Id:
rs875989803
PubMed:
PMID:27159028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41343249G>T , CM000685.2:g.41343249G>T | GRCh38 |
| NC_000023.10:g.41202502G>T , CM000685.1:g.41202502G>T | GRCh37 |
| NC_000023.9:g.41087446G>T | NCBI36 |
| NG_012830.1:g.14852G>T | |
| NG_012830.2:g.14852G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642322.2:c.709G>T | ENSP00000496052.2:p.Gly237Ter | |
| ENST00000399959.7:c.574G>T | ENSP00000382840.3:p.Gly192Ter | |
| ENST00000441189.4:c.577G>T | ENSP00000414281.3:p.Gly193Ter | |
| ENST00000457138.7:c.529G>T | ENSP00000392494.2:p.Gly177Ter | |
| ENST00000629496.3:c.577G>T | ENSP00000487224.1:p.Gly193Ter | |
| ENST00000631641.2:n.620G>T | ||
| ENST00000642161.1:n.2776G>T | ||
| ENST00000642322.1:c.19G>T | ENSP00000496052.1:p.Gly7Ter | |
| ENST00000642424.1:c.19G>T | ENSP00000496356.1:p.Gly7Ter | |
| ENST00000642589.1:n.3307G>T | ||
| ENST00000642597.1:n.751G>T | ||
| ENST00000642624.1:n.550G>T | ||
| ENST00000642687.1:n.610G>T | ||
| ENST00000642722.1:n.1512+413G>T | ||
| ENST00000642763.1:n.1468G>T | ||
| ENST00000642793.1:c.*26G>T | ENSP00000493976.1:n.*26G>T | |
| ENST00000642801.1:n.226G>T | ||
| ENST00000643963.1:c.543+413G>T | ENSP00000495264.1:n.543+413G>T | |
| ENST00000644073.1:c.535G>T | ENSP00000493475.1:p.Gly179Ter | |
| ENST00000644074.1:c.574G>T | ENSP00000496663.1:p.Gly192Ter | |
| ENST00000644109.1:c.574G>T | ENSP00000494952.1:p.Gly192Ter | |
| ENST00000644260.1:n.867G>T | ||
| ENST00000644307.1:n.668G>T | ||
| ENST00000644513.1:c.577G>T | ENSP00000493819.1:p.Gly193Ter | |
| ENST00000644677.1:c.460G>T | ENSP00000496524.1:p.Gly154Ter | |
| ENST00000644876.2:c.577G>T MANE Select | ENSP00000494040.1:p.Gly193Ter | |
| ENST00000644958.1:n.2238G>T | ||
| ENST00000645080.1:c.*1799G>T | ENSP00000494767.1:n.*1799G>T | |
| ENST00000645120.1:n.2072G>T | ||
| ENST00000645338.1:n.668G>T | ||
| ENST00000645380.1:n.1962G>T | ||
| ENST00000645561.1:n.1546G>T | ||
| ENST00000645574.1:n.2849G>T | ||
| ENST00000645589.1:c.577G>T | ENSP00000494588.1:p.Gly193Ter | |
| ENST00000646107.1:c.460G>T | ENSP00000494518.1:p.Gly154Ter | |
| ENST00000646122.1:c.577G>T | ENSP00000496222.1:p.Gly193Ter | |
| ENST00000646196.1:n.1546G>T | ||
| ENST00000646223.1:c.*570G>T | ENSP00000496043.1:n.*570G>T | |
| ENST00000646319.1:c.577G>T | ENSP00000495377.1:p.Gly193Ter | |
| ENST00000646390.1:n.2865G>T | ||
| ENST00000646627.1:c.19G>T | ENSP00000493795.1:p.Gly7Ter | |
| ENST00000646679.1:c.19G>T | ENSP00000494887.1:p.Gly7Ter | |
| ENST00000646822.1:n.1047G>T | ||
| ENST00000646940.1:n.751G>T | ||
| ENST00000647286.1:n.468G>T | ||
| ENST00000647373.1:c.101-40G>T | ||
| ENST00000399959.6:c.577G>T | ENSP00000382840.2:p.Gly193Ter | |
| ENST00000441189.3:c.340+699G>T | ENSP00000414281.2:n.340+699G>T | |
| ENST00000457138.6:c.529G>T | ENSP00000392494.2:p.Gly177Ter | |
| ENST00000478993.5:c.577G>T | ENSP00000478443.1:p.Gly193Ter | |
| ENST00000542215.5:n.711G>T | ||
| ENST00000625837.2:c.577G>T | ENSP00000486306.1:p.Gly193Ter | |
| ENST00000626301.2:c.577G>T | ENSP00000486443.1:p.Gly193Ter | |
| ENST00000629496.2:c.577G>T | ENSP00000487224.1:p.Gly193Ter | |
| ENST00000629785.2:c.577G>T | ENSP00000486516.1:p.Gly193Ter | |
| ENST00000630255.2:c.577G>T | ENSP00000486720.1:p.Gly193Ter | |
| ENST00000630370.2:c.577G>T | ENSP00000487062.1:p.Gly193Ter | |
| ENST00000630858.2:c.577G>T | ENSP00000486514.1:p.Gly193Ter | |
| NM_001193416.2:c.577G>T | NP_001180345.1:p.Gly193Ter | |
| NM_001193417.2:c.529G>T | NP_001180346.1:p.Gly177Ter | |
| NM_001356.4:c.577G>T | NP_001347.3:p.Gly193Ter | |
| NR_126093.1:n.1522G>T | ||
| XM_011543892.1:c.577G>T | XP_011542194.1:p.Gly193Ter | |
| NM_001363819.1:c.19G>T | NP_001350748.1:p.Gly7Ter | |
| XM_011543892.2:c.577G>T | XP_011542194.1:p.Gly193Ter | |
| XM_017029313.1:c.19G>T | XP_016884802.1:p.Gly7Ter | |
| NM_001193416.3:c.577G>T | NP_001180345.1:p.Gly193Ter | |
| NM_001193417.3:c.529G>T | NP_001180346.1:p.Gly177Ter | |
| NM_001356.5:c.577G>T MANE Select | NP_001347.3:p.Gly193Ter |