Linked Data
ClinVar Variation Id:
132749
ClinVar RCV Id:
RCV000119206
RCV000130570
RCV000235422
RCV000677781
RCV001354303
RCV000368182
RCV000588540
RCV003315710
dbSNP Id:
rs377278397
ExAC:
5:112174665 T / C
gnomAD v2:
5-112174665-T-C
gnomAD v3:
5-112838968-T-C
gnomAD v4:
5-112838968-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838968T>C , CM000667.2:g.112838968T>C | GRCh38 |
| NC_000005.9:g.112174665T>C , CM000667.1:g.112174665T>C | GRCh37 |
| NC_000005.8:g.112202564T>C | NCBI36 |
| NG_008481.4:g.151448T>C , LRG_130:g.151448T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3039T>C | ENSP00000484935.2:n.3039T>C | |
| ENST00000504915.3:c.3428T>C | ENSP00000473355.2:p.Val1143Ala | |
| ENST00000505350.2:c.*3380T>C | ENSP00000481752.1:n.*3380T>C | |
| ENST00000507379.6:c.3320T>C | ENSP00000423224.2:p.Val1107Ala | |
| ENST00000509732.6:c.3374T>C | ENSP00000426541.2:p.Val1125Ala | |
| ENST00000512211.7:c.3374T>C | ENSP00000423828.3:p.Val1125Ala | |
| ENST00000257430.9:c.3374T>C MANE Select | ENSP00000257430.4:p.Val1125Ala | |
| ENST00000257430.8:c.3374T>C | ENSP00000257430.4:p.Val1125Ala | |
| ENST00000502371.2:c.1727T>C | ||
| ENST00000507379.5:c.3320T>C | ENSP00000423224.1:p.Val1107Ala | |
| ENST00000508376.6:c.3374T>C | ENSP00000427089.2:p.Val1125Ala | |
| ENST00000508624.5:c.*2696T>C | ENSP00000424265.1:n.*2696T>C | |
| ENST00000512211.6:c.3374T>C | ENSP00000423828.2:p.Val1125Ala | |
| ENST00000520401.1:c.230+9996T>C | ||
| NM_000038.5:c.3374T>C | NP_000029.2:p.Val1125Ala | |
| NM_001127510.2:c.3374T>C | NP_001120982.1:p.Val1125Ala | |
| NM_001127511.2:c.3320T>C | NP_001120983.2:p.Val1107Ala | |
| NM_001354895.1:c.3374T>C | NP_001341824.1:p.Val1125Ala | |
| NM_001354896.1:c.3428T>C | NP_001341825.1:p.Val1143Ala | |
| NM_001354897.1:c.3404T>C | NP_001341826.1:p.Val1135Ala | |
| NM_001354898.1:c.3299T>C | NP_001341827.1:p.Val1100Ala | |
| NM_001354899.1:c.3290T>C | NP_001341828.1:p.Val1097Ala | |
| NM_001354900.1:c.3251T>C | NP_001341829.1:p.Val1084Ala | |
| NM_001354901.1:c.3197T>C | NP_001341830.1:p.Val1066Ala | |
| NM_001354902.1:c.3101T>C | NP_001341831.1:p.Val1034Ala | |
| NM_001354903.1:c.3071T>C | NP_001341832.1:p.Val1024Ala | |
| NM_001354904.1:c.2996T>C | NP_001341833.1:p.Val999Ala | |
| NM_001354905.1:c.2894T>C | NP_001341834.1:p.Val965Ala | |
| NM_001354906.1:c.2525T>C | NP_001341835.1:p.Val842Ala | |
| NM_000038.6:c.3374T>C MANE Select | NP_000029.2:p.Val1125Ala | |
| NM_001127510.3:c.3374T>C | NP_001120982.1:p.Val1125Ala | |
| NM_001127511.3:c.3320T>C | NP_001120983.2:p.Val1107Ala | |
| NM_001354895.2:c.3374T>C | NP_001341824.1:p.Val1125Ala | |
| NM_001354896.2:c.3428T>C | NP_001341825.1:p.Val1143Ala | |
| NM_001354897.2:c.3404T>C | NP_001341826.1:p.Val1135Ala | |
| NM_001354898.2:c.3299T>C | NP_001341827.1:p.Val1100Ala | |
| NM_001354899.2:c.3290T>C | NP_001341828.1:p.Val1097Ala | |
| NM_001354900.2:c.3251T>C | NP_001341829.1:p.Val1084Ala | |
| NM_001354901.2:c.3197T>C | NP_001341830.1:p.Val1066Ala | |
| NM_001354902.2:c.3101T>C | NP_001341831.1:p.Val1034Ala | |
| NM_001354903.2:c.3071T>C | NP_001341832.1:p.Val1024Ala | |
| NM_001354904.2:c.2996T>C | NP_001341833.1:p.Val999Ala | |
| NM_001354905.2:c.2894T>C | NP_001341834.1:p.Val965Ala | |
| NM_001354906.2:c.2525T>C | NP_001341835.1:p.Val842Ala |