Linked Data
ClinVar Variation Id:
141293
ClinVar RCV Id:
RCV000129750
RCV000211911
RCV000412401
RCV001818303
RCV003315882
RCV003407543
RCV003997521
dbSNP Id:
rs587781637
ExAC:
5:112175115 G / C
gnomAD v2:
5-112175115-G-C
gnomAD v3:
5-112839418-G-C
gnomAD v4:
5-112839418-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839418G>C , CM000667.2:g.112839418G>C | GRCh38 |
| NC_000005.9:g.112175115G>C , CM000667.1:g.112175115G>C | GRCh37 |
| NC_000005.8:g.112203014G>C | NCBI36 |
| NG_008481.4:g.151898G>C , LRG_130:g.151898G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3489G>C | ENSP00000484935.2:n.3489G>C | |
| ENST00000504915.3:c.3878G>C | ENSP00000473355.2:p.Ser1293Thr | |
| ENST00000505350.2:c.*3830G>C | ENSP00000481752.1:n.*3830G>C | |
| ENST00000507379.6:c.3770G>C | ENSP00000423224.2:p.Ser1257Thr | |
| ENST00000509732.6:c.3824G>C | ENSP00000426541.2:p.Ser1275Thr | |
| ENST00000512211.7:c.3824G>C | ENSP00000423828.3:p.Ser1275Thr | |
| ENST00000257430.9:c.3824G>C MANE Select | ENSP00000257430.4:p.Ser1275Thr | |
| ENST00000257430.8:c.3824G>C | ENSP00000257430.4:p.Ser1275Thr | |
| ENST00000502371.2:c.2177G>C | ||
| ENST00000508376.6:c.3824G>C | ENSP00000427089.2:p.Ser1275Thr | |
| ENST00000508624.5:c.*3146G>C | ENSP00000424265.1:n.*3146G>C | |
| ENST00000512211.6:c.3824G>C | ENSP00000423828.2:p.Ser1275Thr | |
| ENST00000520401.1:c.230+10446G>C | ||
| NM_000038.5:c.3824G>C | NP_000029.2:p.Ser1275Thr | |
| NM_001127510.2:c.3824G>C | NP_001120982.1:p.Ser1275Thr | |
| NM_001127511.2:c.3770G>C | NP_001120983.2:p.Ser1257Thr | |
| NM_001354895.1:c.3824G>C | NP_001341824.1:p.Ser1275Thr | |
| NM_001354896.1:c.3878G>C | NP_001341825.1:p.Ser1293Thr | |
| NM_001354897.1:c.3854G>C | NP_001341826.1:p.Ser1285Thr | |
| NM_001354898.1:c.3749G>C | NP_001341827.1:p.Ser1250Thr | |
| NM_001354899.1:c.3740G>C | NP_001341828.1:p.Ser1247Thr | |
| NM_001354900.1:c.3701G>C | NP_001341829.1:p.Ser1234Thr | |
| NM_001354901.1:c.3647G>C | NP_001341830.1:p.Ser1216Thr | |
| NM_001354902.1:c.3551G>C | NP_001341831.1:p.Ser1184Thr | |
| NM_001354903.1:c.3521G>C | NP_001341832.1:p.Ser1174Thr | |
| NM_001354904.1:c.3446G>C | NP_001341833.1:p.Ser1149Thr | |
| NM_001354905.1:c.3344G>C | NP_001341834.1:p.Ser1115Thr | |
| NM_001354906.1:c.2975G>C | NP_001341835.1:p.Ser992Thr | |
| NM_000038.6:c.3824G>C MANE Select | NP_000029.2:p.Ser1275Thr | |
| NM_001127510.3:c.3824G>C | NP_001120982.1:p.Ser1275Thr | |
| NM_001127511.3:c.3770G>C | NP_001120983.2:p.Ser1257Thr | |
| NM_001354895.2:c.3824G>C | NP_001341824.1:p.Ser1275Thr | |
| NM_001354896.2:c.3878G>C | NP_001341825.1:p.Ser1293Thr | |
| NM_001354897.2:c.3854G>C | NP_001341826.1:p.Ser1285Thr | |
| NM_001354898.2:c.3749G>C | NP_001341827.1:p.Ser1250Thr | |
| NM_001354899.2:c.3740G>C | NP_001341828.1:p.Ser1247Thr | |
| NM_001354900.2:c.3701G>C | NP_001341829.1:p.Ser1234Thr | |
| NM_001354901.2:c.3647G>C | NP_001341830.1:p.Ser1216Thr | |
| NM_001354902.2:c.3551G>C | NP_001341831.1:p.Ser1184Thr | |
| NM_001354903.2:c.3521G>C | NP_001341832.1:p.Ser1174Thr | |
| NM_001354904.2:c.3446G>C | NP_001341833.1:p.Ser1149Thr | |
| NM_001354905.2:c.3344G>C | NP_001341834.1:p.Ser1115Thr | |
| NM_001354906.2:c.2975G>C | NP_001341835.1:p.Ser992Thr |