UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
231954
ClinVar RCV Id:
RCV003335256
dbSNP Id:
rs876659460
gnomAD v2:
5-112170806-T-G
gnomAD v4:
5-112835109-T-G
PubMed:
PMID:24599579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835109T>G , CM000667.2:g.112835109T>G | GRCh38 |
| NC_000005.9:g.112170806T>G , CM000667.1:g.112170806T>G | GRCh37 |
| NC_000005.8:g.112198705T>G | NCBI36 |
| NG_008481.4:g.147589T>G , LRG_130:g.147589T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1567T>G | ENSP00000484935.2:n.1567T>G | |
| ENST00000504915.3:c.1956T>G | ENSP00000473355.2:p.Ser652Arg | |
| ENST00000505350.2:c.*1908T>G | ENSP00000481752.1:n.*1908T>G | |
| ENST00000507379.6:c.1848T>G | ENSP00000423224.2:p.Ser616Arg | |
| ENST00000509732.6:c.1902T>G | ENSP00000426541.2:p.Ser634Arg | |
| ENST00000512211.7:c.1902T>G | ENSP00000423828.3:p.Ser634Arg | |
| ENST00000257430.9:c.1902T>G MANE Select | ENSP00000257430.4:p.Ser634Arg | |
| ENST00000257430.8:c.1902T>G | ENSP00000257430.4:p.Ser634Arg | |
| ENST00000502371.2:c.255T>G | ||
| ENST00000504915.2:c.591T>G | ENSP00000473355.1:p.Ser197Arg | |
| ENST00000507379.5:c.1848T>G | ENSP00000423224.1:p.Ser616Arg | |
| ENST00000508376.6:c.1902T>G | ENSP00000427089.2:p.Ser634Arg | |
| ENST00000508624.5:c.*1224T>G | ENSP00000424265.1:n.*1224T>G | |
| ENST00000512211.6:c.1902T>G | ENSP00000423828.2:p.Ser634Arg | |
| ENST00000520401.1:c.230+6137T>G | ||
| NM_000038.5:c.1902T>G | NP_000029.2:p.Ser634Arg | |
| NM_001127510.2:c.1902T>G | NP_001120982.1:p.Ser634Arg | |
| NM_001127511.2:c.1848T>G | NP_001120983.2:p.Ser616Arg | |
| NM_001354895.1:c.1902T>G | NP_001341824.1:p.Ser634Arg | |
| NM_001354896.1:c.1956T>G | NP_001341825.1:p.Ser652Arg | |
| NM_001354897.1:c.1932T>G | NP_001341826.1:p.Ser644Arg | |
| NM_001354898.1:c.1827T>G | NP_001341827.1:p.Ser609Arg | |
| NM_001354899.1:c.1818T>G | NP_001341828.1:p.Ser606Arg | |
| NM_001354900.1:c.1779T>G | NP_001341829.1:p.Ser593Arg | |
| NM_001354901.1:c.1725T>G | NP_001341830.1:p.Ser575Arg | |
| NM_001354902.1:c.1629T>G | NP_001341831.1:p.Ser543Arg | |
| NM_001354903.1:c.1599T>G | NP_001341832.1:p.Ser533Arg | |
| NM_001354904.1:c.1524T>G | NP_001341833.1:p.Ser508Arg | |
| NM_001354905.1:c.1422T>G | NP_001341834.1:p.Ser474Arg | |
| NM_001354906.1:c.1053T>G | NP_001341835.1:p.Ser351Arg | |
| NM_000038.6:c.1902T>G MANE Select | NP_000029.2:p.Ser634Arg | |
| NM_001127510.3:c.1902T>G | NP_001120982.1:p.Ser634Arg | |
| NM_001127511.3:c.1848T>G | NP_001120983.2:p.Ser616Arg | |
| NM_001354895.2:c.1902T>G | NP_001341824.1:p.Ser634Arg | |
| NM_001354896.2:c.1956T>G | NP_001341825.1:p.Ser652Arg | |
| NM_001354897.2:c.1932T>G | NP_001341826.1:p.Ser644Arg | |
| NM_001354898.2:c.1827T>G | NP_001341827.1:p.Ser609Arg | |
| NM_001354899.2:c.1818T>G | NP_001341828.1:p.Ser606Arg | |
| NM_001354900.2:c.1779T>G | NP_001341829.1:p.Ser593Arg | |
| NM_001354901.2:c.1725T>G | NP_001341830.1:p.Ser575Arg | |
| NM_001354902.2:c.1629T>G | NP_001341831.1:p.Ser543Arg | |
| NM_001354903.2:c.1599T>G | NP_001341832.1:p.Ser533Arg | |
| NM_001354904.2:c.1524T>G | NP_001341833.1:p.Ser508Arg | |
| NM_001354905.2:c.1422T>G | NP_001341834.1:p.Ser474Arg | |
| NM_001354906.2:c.1053T>G | NP_001341835.1:p.Ser351Arg |