Linked Data
ClinVar Variation Id:
41518
dbSNP Id:
rs137854580
gnomAD v2:
5-112162891-C-G
gnomAD v4:
5-112827194-C-G
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112827194C>G , CM000667.2:g.112827194C>G | GRCh38 |
| NC_000005.9:g.112162891C>G , CM000667.1:g.112162891C>G | GRCh37 |
| NC_000005.8:g.112190790C>G | NCBI36 |
| NG_008481.4:g.139674C>G , LRG_130:g.139674C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1408+5203C>G | ENSP00000484935.2:n.1408+5203C>G | |
| ENST00000504915.3:c.1549C>G | ENSP00000473355.2:p.Arg517Gly | |
| ENST00000505084.2:n.1551C>G | ||
| ENST00000505350.2:c.*1501C>G | ENSP00000481752.1:n.*1501C>G | |
| ENST00000507379.6:c.1441C>G | ENSP00000423224.2:p.Arg481Gly | |
| ENST00000509732.6:c.1495C>G | ENSP00000426541.2:p.Arg499Gly | |
| ENST00000512211.7:c.1495C>G | ENSP00000423828.3:p.Arg499Gly | |
| ENST00000257430.9:c.1495C>G MANE Select | ENSP00000257430.4:p.Arg499Gly | |
| ENST00000257430.8:c.1495C>G | ENSP00000257430.4:p.Arg499Gly | |
| ENST00000502371.2:c.96+5203C>G | ||
| ENST00000504915.2:c.184C>G | ENSP00000473355.1:p.Arg62Gly | |
| ENST00000507379.5:c.1441C>G | ENSP00000423224.1:p.Arg481Gly | |
| ENST00000508376.6:c.1495C>G | ENSP00000427089.2:p.Arg499Gly | |
| ENST00000508624.5:c.*817C>G | ENSP00000424265.1:n.*817C>G | |
| ENST00000512211.6:c.1495C>G | ENSP00000423828.2:p.Arg499Gly | |
| NM_000038.5:c.1495C>G | NP_000029.2:p.Arg499Gly | |
| NM_001127510.2:c.1495C>G | NP_001120982.1:p.Arg499Gly | |
| NM_001127511.2:c.1441C>G | NP_001120983.2:p.Arg481Gly | |
| NM_001354895.1:c.1495C>G | NP_001341824.1:p.Arg499Gly | |
| NM_001354896.1:c.1549C>G | NP_001341825.1:p.Arg517Gly | |
| NM_001354897.1:c.1525C>G | NP_001341826.1:p.Arg509Gly | |
| NM_001354898.1:c.1420C>G | NP_001341827.1:p.Arg474Gly | |
| NM_001354899.1:c.1411C>G | NP_001341828.1:p.Arg471Gly | |
| NM_001354900.1:c.1372C>G | NP_001341829.1:p.Arg458Gly | |
| NM_001354901.1:c.1318C>G | NP_001341830.1:p.Arg440Gly | |
| NM_001354902.1:c.1222C>G | NP_001341831.1:p.Arg408Gly | |
| NM_001354903.1:c.1192C>G | NP_001341832.1:p.Arg398Gly | |
| NM_001354904.1:c.1117C>G | NP_001341833.1:p.Arg373Gly | |
| NM_001354905.1:c.1015C>G | NP_001341834.1:p.Arg339Gly | |
| NM_001354906.1:c.646C>G | NP_001341835.1:p.Arg216Gly | |
| NM_000038.6:c.1495C>G MANE Select | NP_000029.2:p.Arg499Gly | |
| NM_001127510.3:c.1495C>G | NP_001120982.1:p.Arg499Gly | |
| NM_001127511.3:c.1441C>G | NP_001120983.2:p.Arg481Gly | |
| NM_001354895.2:c.1495C>G | NP_001341824.1:p.Arg499Gly | |
| NM_001354896.2:c.1549C>G | NP_001341825.1:p.Arg517Gly | |
| NM_001354897.2:c.1525C>G | NP_001341826.1:p.Arg509Gly | |
| NM_001354898.2:c.1420C>G | NP_001341827.1:p.Arg474Gly | |
| NM_001354899.2:c.1411C>G | NP_001341828.1:p.Arg471Gly | |
| NM_001354900.2:c.1372C>G | NP_001341829.1:p.Arg458Gly | |
| NM_001354901.2:c.1318C>G | NP_001341830.1:p.Arg440Gly | |
| NM_001354902.2:c.1222C>G | NP_001341831.1:p.Arg408Gly | |
| NM_001354903.2:c.1192C>G | NP_001341832.1:p.Arg398Gly | |
| NM_001354904.2:c.1117C>G | NP_001341833.1:p.Arg373Gly | |
| NM_001354905.2:c.1015C>G | NP_001341834.1:p.Arg339Gly | |
| NM_001354906.2:c.646C>G | NP_001341835.1:p.Arg216Gly |