Linked Data
ClinVar Variation Id:
135204
dbSNP Id:
rs143991928
ExAC:
3:47125370 C / T
gnomAD v2:
3-47125370-C-T
gnomAD v3:
3-47083880-C-T
gnomAD v4:
3-47083880-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47083880C>T , CM000665.2:g.47083880C>T | GRCh38 |
| NC_000003.11:g.47125370C>T , CM000665.1:g.47125370C>T | GRCh37 |
| NC_000003.10:g.47100374C>T | NCBI36 |
| NG_032091.1:g.85098G>A , LRG_775:g.85098G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.5768G>A | ENSP00000491413.2:p.Gly1923Asp | |
| ENST00000685005.1:c.5666G>A | ENSP00000509568.1:p.Gly1889Asp | |
| ENST00000685237.1:n.2609G>A | ||
| ENST00000685399.1:c.3780G>A | ||
| ENST00000685505.1:c.3841G>A | ||
| ENST00000686773.1:c.3780G>A | ||
| ENST00000686876.1:c.2616G>A | ||
| ENST00000688290.1:c.3780G>A | ||
| ENST00000690157.1:c.2413+2315G>A | ||
| ENST00000690461.1:c.4064G>A | ENSP00000509352.1:p.Gly1355Asp | |
| ENST00000691544.1:c.956G>A | ENSP00000510710.1:p.Gly319Asp | |
| ENST00000691902.1:c.1856-16762G>A | ||
| ENST00000692362.1:n.1705G>A | ||
| ENST00000692883.1:c.3841G>A | ||
| ENST00000693321.1:c.3780G>A | ||
| ENST00000693738.1:n.1007G>A | ||
| ENST00000409792.4:c.5900G>A MANE Select | ENSP00000386759.3:p.Gly1967Asp | |
| ENST00000638947.1:c.1550G>A | ENSP00000491413.1:p.Gly517Asp | |
| ENST00000330022.11:c.5720G>A | ||
| ENST00000409792.3:c.5900G>A | ENSP00000386759.3:p.Gly1967Asp | |
| ENST00000431180.5:c.4928G>A | ||
| ENST00000445387.5:c.4800G>A | ||
| ENST00000492397.1:n.67G>A | ||
| NM_014159.6:c.5900G>A , LRG_775t1:c.5900G>A | NP_054878.5:p.Gly1967Asp | |
| XM_011533631.1:c.5978G>A | XP_011531933.1:p.Gly1993Asp | |
| XM_011533632.1:c.5924G>A | XP_011531934.1:p.Gly1975Asp | |
| XM_011533633.1:c.5843G>A | XP_011531935.1:p.Gly1948Asp | |
| XM_011533634.1:c.5768G>A | XP_011531936.1:p.Gly1923Asp | |
| XR_940418.1:n.5993G>A | ||
| XR_940419.1:n.6081G>A | ||
| XR_940420.1:n.6081G>A | ||
| NM_001349370.1:c.5768G>A | NP_001336299.1:p.Gly1923Asp | |
| NR_146158.1:n.5953G>A | ||
| XM_011533632.3:c.5924G>A | XP_011531934.1:p.Gly1975Asp | |
| XM_024453487.1:c.5633G>A | XP_024309255.1:p.Gly1878Asp | |
| XM_024453488.1:c.5468G>A | XP_024309256.1:p.Gly1823Asp | |
| XR_001740131.2:n.5653G>A | ||
| XR_002959510.1:n.5829G>A | ||
| XR_002959511.1:n.5829G>A | ||
| XR_002959512.1:n.5829G>A | ||
| XR_002959513.1:n.5829G>A | ||
| XR_002959514.1:n.5829G>A | ||
| XR_002959515.1:n.5694G>A | ||
| XR_002959516.1:n.5731G>A | ||
| XR_002959517.1:n.5731G>A | ||
| NM_001349370.2:c.5768G>A | NP_001336299.1:p.Gly1923Asp | |
| NR_146158.2:n.6089G>A | ||
| NM_001349370.3:c.5768G>A | NP_001336299.1:p.Gly1923Asp | |
| NM_014159.7:c.5900G>A MANE Select | NP_054878.5:p.Gly1967Asp | |
| NR_146158.3:n.6089G>A |