Linked Data
ClinVar Variation Id:
372
ClinVar RCV Id:
RCV000000403
dbSNP Id:
rs137854565
PubMed:
PMID:15523642
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31330459G>T , CM000679.2:g.31330459G>T | GRCh38 |
| NC_000017.10:g.29657477G>T , CM000679.1:g.29657477G>T | GRCh37 |
| NC_000017.9:g.26681603G>T | NCBI36 |
| NG_009018.1:g.240483G>T , LRG_214:g.240483G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000581113.7:c.1961G>T | ENSP00000492721.2:n.1961G>T | |
| ENST00000696138.1:c.5755G>T | ENSP00000512431.1:p.Glu1919Ter | |
| ENST00000684826.1:c.337G>T | ENSP00000509994.1:p.Glu113Ter | |
| ENST00000687027.1:c.-72G>T | ENSP00000508715.1:n.-72G>T | |
| ENST00000687863.1:n.2418G>T | ||
| ENST00000691014.1:c.5803G>T | ENSP00000510595.1:p.Glu1935Ter | |
| ENST00000693617.1:c.337G>T | ENSP00000510031.1:p.Glu113Ter | |
| ENST00000358273.9:c.5773G>T MANE Select | ENSP00000351015.4:p.Glu1925Ter | |
| ENST00000356175.7:c.5710G>T | ENSP00000348498.3:p.Glu1904Ter | |
| ENST00000358273.8:c.5773G>T | ENSP00000351015.4:p.Glu1925Ter | |
| ENST00000456735.6:c.4708G>T | ENSP00000389907.2:p.Glu1570Ter | |
| ENST00000479536.2:c.131G>T | ||
| ENST00000493220.5:n.4246G>T | ||
| ENST00000579081.5:c.5909G>T | ENSP00000462408.1:n.5909G>T | |
| ENST00000581113.6:n.1090G>T | ||
| NM_000267.3:c.5710G>T , LRG_214t1:c.5710G>T | NP_000258.1:p.Glu1904Ter | |
| NM_001042492.2:c.5773G>T , LRG_214t2:c.5773G>T | NP_001035957.1:p.Glu1925Ter | |
| XM_005257983.1:c.5773G>T | XP_005258040.1:p.Glu1925Ter | |
| XM_005257984.1:c.5710G>T | XP_005258041.1:p.Glu1904Ter | |
| XM_006721922.1:c.5803G>T | XP_006721985.1:p.Glu1935Ter | |
| XM_006721923.2:c.5764G>T | XP_006721986.1:p.Glu1922Ter | |
| XM_006721924.1:c.5803G>T | XP_006721987.1:p.Glu1935Ter | |
| XM_006721925.1:c.5740G>T | XP_006721988.1:p.Glu1914Ter | |
| XM_006721926.2:c.5803G>T | XP_006721989.1:p.Glu1935Ter | |
| XM_006721927.1:c.5803G>T | XP_006721990.1:p.Glu1935Ter | |
| XM_011524852.1:c.5800G>T | XP_011523154.1:p.Glu1934Ter | |
| XM_011524853.1:c.5764G>T | XP_011523155.1:p.Glu1922Ter | |
| XM_011524854.1:c.5764G>T | XP_011523156.1:p.Glu1922Ter | |
| XM_011524855.1:c.5764G>T | XP_011523157.1:p.Glu1922Ter | |
| XM_011524856.1:c.5764G>T | XP_011523158.1:p.Glu1922Ter | |
| XM_011524857.1:c.5803G>T | XP_011523159.1:p.Glu1935Ter | |
| NM_001042492.3:c.5773G>T MANE Select | NP_001035957.1:p.Glu1925Ter |