Linked Data
ClinVar Variation Id:
14567
ClinVar RCV Id:
RCV000015668
dbSNP Id:
rs121912479
PubMed:
PMID:1959923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407267G>T , CM000673.2:g.18407267G>T | GRCh38 |
| NC_000011.9:g.18428814G>T , CM000673.1:g.18428814G>T | GRCh37 |
| NC_000011.8:g.18385390G>T | NCBI36 |
| NG_008185.1:g.17833G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422447.8:c.985G>T MANE Select | ENSP00000395337.3:p.Glu329Ter | |
| ENST00000227157.8:c.*135G>T | ENSP00000227157.4:n.*135G>T | |
| ENST00000375710.7:n.1852G>T | ||
| ENST00000379412.9:c.985G>T | ENSP00000368722.5:p.Glu329Ter | |
| ENST00000396222.6:c.716G>T | ENSP00000379524.2:p.Gly239Val | |
| ENST00000422447.7:c.985G>T | ENSP00000395337.3:p.Glu329Ter | |
| ENST00000430553.6:c.811G>T | ENSP00000406172.2:p.Glu271Ter | |
| ENST00000538451.1:n.872G>T | ||
| ENST00000540430.5:c.1072G>T | ENSP00000445175.1:p.Glu358Ter | |
| ENST00000542179.1:c.985G>T | ENSP00000445331.1:p.Glu329Ter | |
| ENST00000545215.5:c.*729G>T | ENSP00000442637.1:n.*729G>T | |
| NM_001135239.1:c.811G>T | NP_001128711.1:p.Glu271Ter | |
| NM_001165414.1:c.1072G>T | NP_001158886.1:p.Glu358Ter | |
| NM_001165415.1:c.716G>T | NP_001158887.1:p.Gly239Val | |
| NM_001165416.1:c.*135G>T | NP_001158888.1:n.*135G>T | |
| NM_005566.3:c.985G>T | NP_005557.1:p.Glu329Ter | |
| NR_028500.1:n.1139G>T | ||
| NM_005566.4:c.985G>T MANE Select | NP_005557.1:p.Glu329Ter | |
| NM_001165415.2:c.716G>T | NP_001158887.1:p.Gly239Val | |
| NM_001135239.2:c.811G>T | NP_001128711.1:p.Glu271Ter | |
| NM_001165414.2:c.1072G>T | NP_001158886.1:p.Glu358Ter | |
| NM_001165416.2:c.*135G>T | NP_001158888.1:n.*135G>T | |
| NR_028500.2:n.965G>T |