Linked Data
ClinVar Variation Id:
133532
dbSNP Id:
rs587778042
ExAC:
5:112176399 G / C
gnomAD v2:
5-112176399-G-C
gnomAD v3:
5-112840702-G-C
gnomAD v4:
5-112840702-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840702G>C , CM000667.2:g.112840702G>C | GRCh38 |
| NC_000005.9:g.112176399G>C , CM000667.1:g.112176399G>C | GRCh37 |
| NC_000005.8:g.112204298G>C | NCBI36 |
| NG_008481.4:g.153182G>C , LRG_130:g.153182G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5162G>C | ENSP00000473355.2:p.Gly1721Ala | |
| ENST00000505350.2:c.*5114G>C | ENSP00000481752.1:n.*5114G>C | |
| ENST00000507379.6:c.5054G>C | ENSP00000423224.2:p.Gly1685Ala | |
| ENST00000509732.6:c.5108G>C | ENSP00000426541.2:p.Gly1703Ala | |
| ENST00000512211.7:c.5108G>C | ENSP00000423828.3:p.Gly1703Ala | |
| ENST00000257430.9:c.5108G>C MANE Select | ENSP00000257430.4:p.Gly1703Ala | |
| ENST00000257430.8:c.5108G>C | ENSP00000257430.4:p.Gly1703Ala | |
| ENST00000508376.6:c.5108G>C | ENSP00000427089.2:p.Gly1703Ala | |
| ENST00000508624.5:c.*4430G>C | ENSP00000424265.1:n.*4430G>C | |
| ENST00000520401.1:c.230+11730G>C | ||
| NM_000038.5:c.5108G>C | NP_000029.2:p.Gly1703Ala | |
| NM_001127510.2:c.5108G>C | NP_001120982.1:p.Gly1703Ala | |
| NM_001127511.2:c.5054G>C | NP_001120983.2:p.Gly1685Ala | |
| NM_001354895.1:c.5108G>C | NP_001341824.1:p.Gly1703Ala | |
| NM_001354896.1:c.5162G>C | NP_001341825.1:p.Gly1721Ala | |
| NM_001354897.1:c.5138G>C | NP_001341826.1:p.Gly1713Ala | |
| NM_001354898.1:c.5033G>C | NP_001341827.1:p.Gly1678Ala | |
| NM_001354899.1:c.5024G>C | NP_001341828.1:p.Gly1675Ala | |
| NM_001354900.1:c.4985G>C | NP_001341829.1:p.Gly1662Ala | |
| NM_001354901.1:c.4931G>C | NP_001341830.1:p.Gly1644Ala | |
| NM_001354902.1:c.4835G>C | NP_001341831.1:p.Gly1612Ala | |
| NM_001354903.1:c.4805G>C | NP_001341832.1:p.Gly1602Ala | |
| NM_001354904.1:c.4730G>C | NP_001341833.1:p.Gly1577Ala | |
| NM_001354905.1:c.4628G>C | NP_001341834.1:p.Gly1543Ala | |
| NM_001354906.1:c.4259G>C | NP_001341835.1:p.Gly1420Ala | |
| NM_000038.6:c.5108G>C MANE Select | NP_000029.2:p.Gly1703Ala | |
| NM_001127510.3:c.5108G>C | NP_001120982.1:p.Gly1703Ala | |
| NM_001127511.3:c.5054G>C | NP_001120983.2:p.Gly1685Ala | |
| NM_001354895.2:c.5108G>C | NP_001341824.1:p.Gly1703Ala | |
| NM_001354896.2:c.5162G>C | NP_001341825.1:p.Gly1721Ala | |
| NM_001354897.2:c.5138G>C | NP_001341826.1:p.Gly1713Ala | |
| NM_001354898.2:c.5033G>C | NP_001341827.1:p.Gly1678Ala | |
| NM_001354899.2:c.5024G>C | NP_001341828.1:p.Gly1675Ala | |
| NM_001354900.2:c.4985G>C | NP_001341829.1:p.Gly1662Ala | |
| NM_001354901.2:c.4931G>C | NP_001341830.1:p.Gly1644Ala | |
| NM_001354902.2:c.4835G>C | NP_001341831.1:p.Gly1612Ala | |
| NM_001354903.2:c.4805G>C | NP_001341832.1:p.Gly1602Ala | |
| NM_001354904.2:c.4730G>C | NP_001341833.1:p.Gly1577Ala | |
| NM_001354905.2:c.4628G>C | NP_001341834.1:p.Gly1543Ala | |
| NM_001354906.2:c.4259G>C | NP_001341835.1:p.Gly1420Ala |