Linked Data
ClinVar Variation Id:
181799
dbSNP Id:
rs730881244
ExAC:
5:112174536 C / G
gnomAD v2:
5-112174536-C-G
gnomAD v3:
5-112838839-C-G
gnomAD v4:
5-112838839-C-G
PubMed:
PMID:25142776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838839C>G , CM000667.2:g.112838839C>G | GRCh38 |
| NC_000005.9:g.112174536C>G , CM000667.1:g.112174536C>G | GRCh37 |
| NC_000005.8:g.112202435C>G | NCBI36 |
| NG_008481.4:g.151319C>G , LRG_130:g.151319C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2910C>G | ENSP00000484935.2:n.2910C>G | |
| ENST00000504915.3:c.3299C>G | ENSP00000473355.2:p.Thr1100Ser | |
| ENST00000505350.2:c.*3251C>G | ENSP00000481752.1:n.*3251C>G | |
| ENST00000507379.6:c.3191C>G | ENSP00000423224.2:p.Thr1064Ser | |
| ENST00000509732.6:c.3245C>G | ENSP00000426541.2:p.Thr1082Ser | |
| ENST00000512211.7:c.3245C>G | ENSP00000423828.3:p.Thr1082Ser | |
| ENST00000257430.9:c.3245C>G MANE Select | ENSP00000257430.4:p.Thr1082Ser | |
| ENST00000257430.8:c.3245C>G | ENSP00000257430.4:p.Thr1082Ser | |
| ENST00000502371.2:c.1598C>G | ||
| ENST00000507379.5:c.3191C>G | ENSP00000423224.1:p.Thr1064Ser | |
| ENST00000508376.6:c.3245C>G | ENSP00000427089.2:p.Thr1082Ser | |
| ENST00000508624.5:c.*2567C>G | ENSP00000424265.1:n.*2567C>G | |
| ENST00000512211.6:c.3245C>G | ENSP00000423828.2:p.Thr1082Ser | |
| ENST00000520401.1:c.230+9867C>G | ||
| NM_000038.5:c.3245C>G | NP_000029.2:p.Thr1082Ser | |
| NM_001127510.2:c.3245C>G | NP_001120982.1:p.Thr1082Ser | |
| NM_001127511.2:c.3191C>G | NP_001120983.2:p.Thr1064Ser | |
| NM_001354895.1:c.3245C>G | NP_001341824.1:p.Thr1082Ser | |
| NM_001354896.1:c.3299C>G | NP_001341825.1:p.Thr1100Ser | |
| NM_001354897.1:c.3275C>G | NP_001341826.1:p.Thr1092Ser | |
| NM_001354898.1:c.3170C>G | NP_001341827.1:p.Thr1057Ser | |
| NM_001354899.1:c.3161C>G | NP_001341828.1:p.Thr1054Ser | |
| NM_001354900.1:c.3122C>G | NP_001341829.1:p.Thr1041Ser | |
| NM_001354901.1:c.3068C>G | NP_001341830.1:p.Thr1023Ser | |
| NM_001354902.1:c.2972C>G | NP_001341831.1:p.Thr991Ser | |
| NM_001354903.1:c.2942C>G | NP_001341832.1:p.Thr981Ser | |
| NM_001354904.1:c.2867C>G | NP_001341833.1:p.Thr956Ser | |
| NM_001354905.1:c.2765C>G | NP_001341834.1:p.Thr922Ser | |
| NM_001354906.1:c.2396C>G | NP_001341835.1:p.Thr799Ser | |
| NM_000038.6:c.3245C>G MANE Select | NP_000029.2:p.Thr1082Ser | |
| NM_001127510.3:c.3245C>G | NP_001120982.1:p.Thr1082Ser | |
| NM_001127511.3:c.3191C>G | NP_001120983.2:p.Thr1064Ser | |
| NM_001354895.2:c.3245C>G | NP_001341824.1:p.Thr1082Ser | |
| NM_001354896.2:c.3299C>G | NP_001341825.1:p.Thr1100Ser | |
| NM_001354897.2:c.3275C>G | NP_001341826.1:p.Thr1092Ser | |
| NM_001354898.2:c.3170C>G | NP_001341827.1:p.Thr1057Ser | |
| NM_001354899.2:c.3161C>G | NP_001341828.1:p.Thr1054Ser | |
| NM_001354900.2:c.3122C>G | NP_001341829.1:p.Thr1041Ser | |
| NM_001354901.2:c.3068C>G | NP_001341830.1:p.Thr1023Ser | |
| NM_001354902.2:c.2972C>G | NP_001341831.1:p.Thr991Ser | |
| NM_001354903.2:c.2942C>G | NP_001341832.1:p.Thr981Ser | |
| NM_001354904.2:c.2867C>G | NP_001341833.1:p.Thr956Ser | |
| NM_001354905.2:c.2765C>G | NP_001341834.1:p.Thr922Ser | |
| NM_001354906.2:c.2396C>G | NP_001341835.1:p.Thr799Ser |