Linked Data
ClinVar Variation Id:
383375
dbSNP Id:
rs142019870
ExAC:
5:112177243 T / C
gnomAD v2:
5-112177243-T-C
gnomAD v3:
5-112841546-T-C
gnomAD v4:
5-112841546-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841546T>C , CM000667.2:g.112841546T>C | GRCh38 |
| NC_000005.9:g.112177243T>C , CM000667.1:g.112177243T>C | GRCh37 |
| NC_000005.8:g.112205142T>C | NCBI36 |
| NG_008481.4:g.154026T>C , LRG_130:g.154026T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6006T>C | ENSP00000473355.2:p.Asn2002= | |
| ENST00000505350.2:c.*5958T>C | ENSP00000481752.1:n.*5958T>C | |
| ENST00000507379.6:c.5898T>C | ENSP00000423224.2:p.Asn1966= | |
| ENST00000509732.6:c.5952T>C | ENSP00000426541.2:p.Asn1984= | |
| ENST00000512211.7:c.5952T>C | ENSP00000423828.3:p.Asn1984= | |
| ENST00000257430.9:c.5952T>C MANE Select | ENSP00000257430.4:p.Asn1984= | |
| ENST00000257430.8:c.5952T>C | ENSP00000257430.4:p.Asn1984= | |
| ENST00000508376.6:c.5952T>C | ENSP00000427089.2:p.Asn1984= | |
| ENST00000508624.5:c.*5274T>C | ENSP00000424265.1:n.*5274T>C | |
| ENST00000520401.1:c.230+12574T>C | ||
| NM_000038.5:c.5952T>C | NP_000029.2:p.Asn1984= | |
| NM_001127510.2:c.5952T>C | NP_001120982.1:p.Asn1984= | |
| NM_001127511.2:c.5898T>C | NP_001120983.2:p.Asn1966= | |
| NM_001354895.1:c.5952T>C | NP_001341824.1:p.Asn1984= | |
| NM_001354896.1:c.6006T>C | NP_001341825.1:p.Asn2002= | |
| NM_001354897.1:c.5982T>C | NP_001341826.1:p.Asn1994= | |
| NM_001354898.1:c.5877T>C | NP_001341827.1:p.Asn1959= | |
| NM_001354899.1:c.5868T>C | NP_001341828.1:p.Asn1956= | |
| NM_001354900.1:c.5829T>C | NP_001341829.1:p.Asn1943= | |
| NM_001354901.1:c.5775T>C | NP_001341830.1:p.Asn1925= | |
| NM_001354902.1:c.5679T>C | NP_001341831.1:p.Asn1893= | |
| NM_001354903.1:c.5649T>C | NP_001341832.1:p.Asn1883= | |
| NM_001354904.1:c.5574T>C | NP_001341833.1:p.Asn1858= | |
| NM_001354905.1:c.5472T>C | NP_001341834.1:p.Asn1824= | |
| NM_001354906.1:c.5103T>C | NP_001341835.1:p.Asn1701= | |
| NM_000038.6:c.5952T>C MANE Select | NP_000029.2:p.Asn1984= | |
| NM_001127510.3:c.5952T>C | NP_001120982.1:p.Asn1984= | |
| NM_001127511.3:c.5898T>C | NP_001120983.2:p.Asn1966= | |
| NM_001354895.2:c.5952T>C | NP_001341824.1:p.Asn1984= | |
| NM_001354896.2:c.6006T>C | NP_001341825.1:p.Asn2002= | |
| NM_001354897.2:c.5982T>C | NP_001341826.1:p.Asn1994= | |
| NM_001354898.2:c.5877T>C | NP_001341827.1:p.Asn1959= | |
| NM_001354899.2:c.5868T>C | NP_001341828.1:p.Asn1956= | |
| NM_001354900.2:c.5829T>C | NP_001341829.1:p.Asn1943= | |
| NM_001354901.2:c.5775T>C | NP_001341830.1:p.Asn1925= | |
| NM_001354902.2:c.5679T>C | NP_001341831.1:p.Asn1893= | |
| NM_001354903.2:c.5649T>C | NP_001341832.1:p.Asn1883= | |
| NM_001354904.2:c.5574T>C | NP_001341833.1:p.Asn1858= | |
| NM_001354905.2:c.5472T>C | NP_001341834.1:p.Asn1824= | |
| NM_001354906.2:c.5103T>C | NP_001341835.1:p.Asn1701= |