Linked Data
ClinVar Variation Id:
128515
ClinVar RCV Id:
RCV003925129
dbSNP Id:
rs12895357
gnomAD v3:
14-92071010-C-G
gnomAD v4:
14-92071010-C-G
PubMed:
PMID:20301375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92071010C>G , CM000676.2:g.92071010C>G | GRCh38 |
| NC_000014.8:g.92537354C>G , CM000676.1:g.92537354C>G | GRCh37 |
| NC_000014.7:g.91607107C>G | NCBI36 |
| NG_008198.2:g.40612G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359366.10:c.*590G>C | ENSP00000352324.5:n.*590G>C | |
| ENST00000557030.6:c.*111G>C | ENSP00000452139.1:n.*111G>C | |
| ENST00000557311.6:c.379G>C | ENSP00000450642.2:p.Gly127Arg | |
| ENST00000644486.2:c.916G>C MANE Select | ENSP00000496695.1:p.Gly306Arg | |
| ENST00000647161.1:c.916G>C | ENSP00000493680.1:p.Gly306Arg | |
| ENST00000340660.10:c.751G>C | ENSP00000339110.6:p.Gly251Arg | |
| ENST00000359366.9:c.*590G>C | ENSP00000352324.5:n.*590G>C | |
| ENST00000393287.9:c.763G>C | ENSP00000376965.6:p.Gly255Arg | |
| ENST00000429774.6:c.706G>C | ENSP00000389376.3:p.Gly236Arg | |
| ENST00000502250.5:c.379G>C | ENSP00000425322.1:p.Gly127Arg | |
| ENST00000503767.5:c.871G>C | ENSP00000426697.1:p.Gly291Arg | |
| ENST00000526245.1:n.117-12223G>C | ||
| ENST00000532032.5:c.916G>C | ENSP00000437157.1:p.Gly306Arg | |
| ENST00000545170.5:c.943G>C | ENSP00000445618.2:p.Gly315Arg | |
| ENST00000553287.5:n.654G>C | ||
| ENST00000553309.5:n.950G>C | ||
| ENST00000553488.5:c.*731G>C | ENSP00000452461.1:n.*731G>C | |
| ENST00000553491.5:c.763G>C | ENSP00000451996.1:p.Gly255Arg | |
| ENST00000553498.5:n.839G>C | ||
| ENST00000553570.5:c.*375G>C | ENSP00000451405.1:n.*375G>C | |
| ENST00000553686.5:n.797G>C | ||
| ENST00000554040.5:n.520G>C | ||
| ENST00000554214.5:n.699G>C | ||
| ENST00000554350.5:c.*516G>C | ENSP00000451103.1:n.*516G>C | |
| ENST00000554491.5:n.992G>C | ||
| ENST00000554592.5:c.913G>C | ENSP00000451385.1:p.Gly305Arg | |
| ENST00000554672.5:c.622G>C | ENSP00000451417.1:p.Gly208Arg | |
| ENST00000554994.5:c.*375G>C | ENSP00000451771.1:n.*375G>C | |
| ENST00000555381.5:c.706G>C | ENSP00000451001.1:p.Gly236Arg | |
| ENST00000555816.5:c.*423G>C | ENSP00000451910.1:n.*423G>C | |
| ENST00000555958.5:n.785G>C | ||
| ENST00000556082.5:c.*326G>C | ENSP00000450492.1:n.*326G>C | |
| ENST00000556220.5:c.598G>C | ENSP00000450641.1:p.Gly200Arg | |
| ENST00000556274.5:c.*579G>C | ENSP00000451733.1:n.*579G>C | |
| ENST00000556288.5:c.*567G>C | ENSP00000450566.1:n.*567G>C | |
| ENST00000556315.5:c.*590G>C | ENSP00000451132.1:n.*590G>C | |
| ENST00000556339.5:n.453G>C | ||
| ENST00000556374.5:c.*644G>C | ENSP00000451399.1:n.*644G>C | |
| ENST00000556644.5:n.300G>C | ||
| ENST00000556671.5:c.*494G>C | ENSP00000451693.1:n.*494G>C | |
| ENST00000556898.5:c.*413G>C | ENSP00000451769.1:n.*413G>C | |
| ENST00000556958.5:c.*375G>C | ENSP00000452532.1:n.*375G>C | |
| ENST00000557030.5:c.*111G>C | ENSP00000452139.1:n.*111G>C | |
| ENST00000557311.5:c.379G>C | ENSP00000450642.1:p.Gly127Arg | |
| ENST00000558190.5:c.916G>C | ENSP00000478320.1:p.Gly306Arg | |
| ENST00000617719.4:c.*74G>C | ENSP00000481998.1:n.*74G>C | |
| ENST00000620536.4:c.943G>C | ENSP00000484016.1:p.Gly315Arg | |
| ENST00000624063.1:c.31C>G | ENSP00000485197.1:p.Pro11Ala | |
| NM_001127696.1:c.871G>C | NP_001121168.1:p.Gly291Arg | |
| NM_001127697.2:c.763G>C | NP_001121169.2:p.Gly255Arg | |
| NM_001164774.1:c.233G>C | NP_001158246.1:p.Gly78Ala | |
| NM_001164776.1:c.278G>C | NP_001158248.1:p.Gly93Ala | |
| NM_001164777.1:c.113G>C | NP_001158249.1:p.Gly38Ala | |
| NM_001164778.1:c.431G>C | NP_001158250.1:p.Gly144Ala | |
| NM_001164779.1:c.553G>C | NP_001158251.1:p.Gly185Arg | |
| NM_001164780.1:c.379G>C | NP_001158252.1:p.Gly127Arg | |
| NM_001164781.1:c.706G>C | NP_001158253.1:p.Gly236Arg | |
| NM_001164782.1:c.68G>C | NP_001158254.1:p.Gly23Ala | |
| NM_004993.5:c.916G>C | NP_004984.2:p.Gly306Arg | |
| NM_030660.4:c.751G>C | NP_109376.1:p.Gly251Arg | |
| NR_028453.1:n.899G>C | ||
| NR_028454.1:n.734G>C | ||
| NR_028455.1:n.953G>C | ||
| NR_028456.1:n.788G>C | ||
| NR_028457.1:n.1044G>C | ||
| NR_028458.1:n.888G>C | ||
| NR_028459.1:n.1039G>C | ||
| NR_028460.1:n.414G>C | ||
| NR_028461.1:n.897G>C | ||
| NR_028462.1:n.876G>C | ||
| NR_028463.1:n.588G>C | ||
| NR_028464.1:n.886G>C | ||
| NR_028465.1:n.908G>C | ||
| NR_028466.1:n.534G>C | ||
| NR_028467.1:n.900G>C | ||
| NR_028468.1:n.732G>C | ||
| NR_028469.1:n.746G>C | ||
| NR_028470.1:n.204G>C | ||
| NR_031765.1:n.401G>C | ||
| NM_001127696.2:c.871G>C | NP_001121168.1:p.Gly291Arg | |
| NM_001164774.2:c.233G>C | NP_001158246.1:p.Gly78Ala | |
| NM_001164776.2:c.278G>C | NP_001158248.1:p.Gly93Ala | |
| NM_001164777.2:c.113G>C | NP_001158249.1:p.Gly38Ala | |
| NM_001164778.2:c.431G>C | NP_001158250.1:p.Gly144Ala | |
| NM_001164779.2:c.553G>C | NP_001158251.1:p.Gly185Arg | |
| NM_001164780.2:c.379G>C | NP_001158252.1:p.Gly127Arg | |
| NM_001164782.2:c.68G>C | NP_001158254.1:p.Gly23Ala | |
| NM_004993.6:c.916G>C MANE Select | NP_004984.2:p.Gly306Arg | |
| NM_030660.5:c.751G>C | NP_109376.1:p.Gly251Arg | |
| NR_028453.2:n.860G>C | ||
| NR_028454.2:n.695G>C | ||
| NR_028455.2:n.914G>C | ||
| NR_028456.2:n.749G>C | ||
| NR_028457.2:n.1005G>C | ||
| NR_028458.2:n.849G>C | ||
| NR_028459.2:n.1000G>C | ||
| NR_028460.2:n.375G>C | ||
| NR_028461.2:n.858G>C | ||
| NR_028462.2:n.837G>C | ||
| NR_028463.2:n.549G>C | ||
| NR_028464.2:n.847G>C | ||
| NR_028465.2:n.869G>C | ||
| NR_028466.2:n.495G>C | ||
| NR_028467.2:n.861G>C | ||
| NR_028468.2:n.693G>C | ||
| NR_028469.2:n.707G>C | ||
| NR_028470.2:n.165G>C | ||
| NR_031765.2:n.362G>C | ||
| NM_001127697.3:c.763G>C | NP_001121169.2:p.Gly255Arg | |
| NM_001164781.2:c.706G>C | NP_001158253.1:p.Gly236Arg |