Linked Data
ClinVar Variation Id:
133533
dbSNP Id:
rs544549596
ExAC:
5:112178198 G / A
gnomAD v2:
5-112178198-G-A
gnomAD v3:
5-112842501-G-A
gnomAD v4:
5-112842501-G-A
COSMIC:
COSM5979034
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842501G>A , CM000667.2:g.112842501G>A | GRCh38 |
| NC_000005.9:g.112178198G>A , CM000667.1:g.112178198G>A | GRCh37 |
| NC_000005.8:g.112206097G>A | NCBI36 |
| NG_008481.4:g.154981G>A , LRG_130:g.154981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6961G>A | ENSP00000473355.2:p.Gly2321Arg | |
| ENST00000505350.2:c.*6913G>A | ENSP00000481752.1:n.*6913G>A | |
| ENST00000507379.6:c.6853G>A | ENSP00000423224.2:p.Gly2285Arg | |
| ENST00000509732.6:c.6907G>A | ENSP00000426541.2:p.Gly2303Arg | |
| ENST00000512211.7:c.6907G>A | ENSP00000423828.3:p.Gly2303Arg | |
| ENST00000257430.9:c.6907G>A MANE Select | ENSP00000257430.4:p.Gly2303Arg | |
| ENST00000257430.8:c.6907G>A | ENSP00000257430.4:p.Gly2303Arg | |
| ENST00000508376.6:c.6907G>A | ENSP00000427089.2:p.Gly2303Arg | |
| ENST00000508624.5:c.*6229G>A | ENSP00000424265.1:n.*6229G>A | |
| ENST00000520401.1:c.230+13529G>A | ||
| NM_000038.5:c.6907G>A | NP_000029.2:p.Gly2303Arg | |
| NM_001127510.2:c.6907G>A | NP_001120982.1:p.Gly2303Arg | |
| NM_001127511.2:c.6853G>A | NP_001120983.2:p.Gly2285Arg | |
| NM_001354895.1:c.6907G>A | NP_001341824.1:p.Gly2303Arg | |
| NM_001354896.1:c.6961G>A | NP_001341825.1:p.Gly2321Arg | |
| NM_001354897.1:c.6937G>A | NP_001341826.1:p.Gly2313Arg | |
| NM_001354898.1:c.6832G>A | NP_001341827.1:p.Gly2278Arg | |
| NM_001354899.1:c.6823G>A | NP_001341828.1:p.Gly2275Arg | |
| NM_001354900.1:c.6784G>A | NP_001341829.1:p.Gly2262Arg | |
| NM_001354901.1:c.6730G>A | NP_001341830.1:p.Gly2244Arg | |
| NM_001354902.1:c.6634G>A | NP_001341831.1:p.Gly2212Arg | |
| NM_001354903.1:c.6604G>A | NP_001341832.1:p.Gly2202Arg | |
| NM_001354904.1:c.6529G>A | NP_001341833.1:p.Gly2177Arg | |
| NM_001354905.1:c.6427G>A | NP_001341834.1:p.Gly2143Arg | |
| NM_001354906.1:c.6058G>A | NP_001341835.1:p.Gly2020Arg | |
| NM_000038.6:c.6907G>A MANE Select | NP_000029.2:p.Gly2303Arg | |
| NM_001127510.3:c.6907G>A | NP_001120982.1:p.Gly2303Arg | |
| NM_001127511.3:c.6853G>A | NP_001120983.2:p.Gly2285Arg | |
| NM_001354895.2:c.6907G>A | NP_001341824.1:p.Gly2303Arg | |
| NM_001354896.2:c.6961G>A | NP_001341825.1:p.Gly2321Arg | |
| NM_001354897.2:c.6937G>A | NP_001341826.1:p.Gly2313Arg | |
| NM_001354898.2:c.6832G>A | NP_001341827.1:p.Gly2278Arg | |
| NM_001354899.2:c.6823G>A | NP_001341828.1:p.Gly2275Arg | |
| NM_001354900.2:c.6784G>A | NP_001341829.1:p.Gly2262Arg | |
| NM_001354901.2:c.6730G>A | NP_001341830.1:p.Gly2244Arg | |
| NM_001354902.2:c.6634G>A | NP_001341831.1:p.Gly2212Arg | |
| NM_001354903.2:c.6604G>A | NP_001341832.1:p.Gly2202Arg | |
| NM_001354904.2:c.6529G>A | NP_001341833.1:p.Gly2177Arg | |
| NM_001354905.2:c.6427G>A | NP_001341834.1:p.Gly2143Arg | |
| NM_001354906.2:c.6058G>A | NP_001341835.1:p.Gly2020Arg |