Linked Data
ClinVar Variation Id:
1320
ClinVar RCV Id:
RCV000001383
dbSNP Id:
rs267607064
PubMed:
PMID:16767101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228952C>T , CM000682.2:g.3228952C>T | GRCh38 |
| NC_000020.10:g.3209598C>T , CM000682.1:g.3209598C>T | GRCh37 |
| NC_000020.9:g.3157598C>T | NCBI36 |
| NG_017072.1:g.15290G>A | |
| NG_012093.2:g.25086C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.2078G>A MANE Select | ENSP00000493503.1:p.Gly693Glu | |
| ENST00000644011.1:c.2009G>A | ENSP00000496214.1:p.Gly670Glu | |
| ENST00000644692.1:c.1949G>A | ENSP00000493824.1:p.Gly650Glu | |
| ENST00000647296.1:c.1964G>A | ENSP00000495050.1:p.Gly655Glu | |
| ENST00000380056.7:c.2126G>A | ENSP00000369396.3:p.Gly709Glu | |
| ENST00000380059.7:c.2207G>A | ENSP00000369399.3:p.Gly736Glu | |
| ENST00000474451.5:c.*226G>A | ENSP00000476859.1:n.*226G>A | |
| ENST00000488544.1:n.671G>A | ||
| ENST00000539553.6:c.2078G>A | ENSP00000441370.1:p.Gly693Glu | |
| NM_001174089.1:c.2078G>A | NP_001167560.1:p.Gly693Glu | |
| NM_001174090.1:c.2207G>A | NP_001167561.1:p.Gly736Glu | |
| NM_032034.3:c.2126G>A | NP_114423.1:p.Gly709Glu | |
| XM_005260856.3:c.2447G>A | XP_005260913.1:p.Gly816Glu | |
| XM_005260857.1:c.2021G>A | XP_005260914.1:p.Gly674Glu | |
| XM_011529383.1:c.2045G>A | XP_011527685.1:p.Gly682Glu | |
| XM_011529384.1:c.2021G>A | XP_011527686.1:p.Gly674Glu | |
| XM_011529385.1:c.2021G>A | XP_011527687.1:p.Gly674Glu | |
| XR_937167.1:n.2176G>A | ||
| NM_001363745.1:c.1964G>A | NP_001350674.1:p.Gly655Glu | |
| NR_135000.1:n.2176G>A | ||
| XM_005260856.5:c.2447G>A | XP_005260913.1:p.Gly816Glu | |
| XM_011529383.3:c.2045G>A | XP_011527685.1:p.Gly682Glu | |
| XM_017028093.1:c.2441G>A | XP_016883582.1:p.Gly814Glu | |
| XM_017028094.1:c.2021G>A | XP_016883583.1:p.Gly674Glu | |
| XM_017028096.1:c.2021G>A | XP_016883585.1:p.Gly674Glu | |
| XR_001754419.1:n.2621G>A | ||
| XR_001754420.2:n.2601G>A | ||
| NM_001174089.2:c.2078G>A MANE Select | NP_001167560.1:p.Gly693Glu | |
| NM_001363745.2:c.1964G>A | NP_001350674.1:p.Gly655Glu | |
| NM_001174090.2:c.2207G>A | NP_001167561.1:p.Gly736Glu | |
| NM_032034.4:c.2126G>A | NP_114423.1:p.Gly709Glu | |
| NM_001400277.1:c.2021G>A | NP_001387206.1:p.Gly674Glu | |
| NM_001400278.1:c.2021G>A | NP_001387207.1:p.Gly674Glu | |
| NM_001400279.1:c.2021G>A | NP_001387208.1:p.Gly674Glu | |
| NM_001400280.1:c.2093G>A | NP_001387209.1:p.Gly698Glu | |
| NR_174470.1:n.2601G>A | ||
| NR_174471.1:n.2586G>A |