Linked Data
ClinVar Variation Id:
482487
dbSNP Id:
rs1064793023
gnomAD v2:
5-112157598-G-C
gnomAD v4:
5-112821901-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112821901G>C , CM000667.2:g.112821901G>C | GRCh38 |
| NC_000005.9:g.112157598G>C , CM000667.1:g.112157598G>C | GRCh37 |
| NC_000005.8:g.112185497G>C | NCBI36 |
| NG_008481.4:g.134381G>C , LRG_130:g.134381G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1318G>C | ENSP00000484935.2:p.Ala440Pro | |
| ENST00000504915.3:c.1318G>C | ENSP00000473355.2:p.Ala440Pro | |
| ENST00000505084.2:n.1374G>C | ||
| ENST00000505350.2:c.*1324G>C | ENSP00000481752.1:n.*1324G>C | |
| ENST00000507379.6:c.1264G>C | ENSP00000423224.2:p.Ala422Pro | |
| ENST00000509732.6:c.1318G>C | ENSP00000426541.2:p.Ala440Pro | |
| ENST00000512211.7:c.1318G>C | ENSP00000423828.3:p.Ala440Pro | |
| ENST00000257430.9:c.1318G>C MANE Select | ENSP00000257430.4:p.Ala440Pro | |
| ENST00000257430.8:c.1318G>C | ENSP00000257430.4:p.Ala440Pro | |
| ENST00000502371.2:c.6G>C | ||
| ENST00000507379.5:c.1264G>C | ENSP00000423224.1:p.Ala422Pro | |
| ENST00000508376.6:c.1318G>C | ENSP00000427089.2:p.Ala440Pro | |
| ENST00000508624.5:c.*640G>C | ENSP00000424265.1:n.*640G>C | |
| ENST00000512211.6:c.1318G>C | ENSP00000423828.2:p.Ala440Pro | |
| NM_000038.5:c.1318G>C | NP_000029.2:p.Ala440Pro | |
| NM_001127510.2:c.1318G>C | NP_001120982.1:p.Ala440Pro | |
| NM_001127511.2:c.1264G>C | NP_001120983.2:p.Ala422Pro | |
| NM_001354895.1:c.1318G>C | NP_001341824.1:p.Ala440Pro | |
| NM_001354896.1:c.1318G>C | NP_001341825.1:p.Ala440Pro | |
| NM_001354897.1:c.1348G>C | NP_001341826.1:p.Ala450Pro | |
| NM_001354898.1:c.1243G>C | NP_001341827.1:p.Ala415Pro | |
| NM_001354899.1:c.1234G>C | NP_001341828.1:p.Ala412Pro | |
| NM_001354900.1:c.1141G>C | NP_001341829.1:p.Ala381Pro | |
| NM_001354901.1:c.1141G>C | NP_001341830.1:p.Ala381Pro | |
| NM_001354902.1:c.1045G>C | NP_001341831.1:p.Ala349Pro | |
| NM_001354903.1:c.1015G>C | NP_001341832.1:p.Ala339Pro | |
| NM_001354904.1:c.940G>C | NP_001341833.1:p.Ala314Pro | |
| NM_001354905.1:c.838G>C | NP_001341834.1:p.Ala280Pro | |
| NM_001354906.1:c.469G>C | NP_001341835.1:p.Ala157Pro | |
| NM_000038.6:c.1318G>C MANE Select | NP_000029.2:p.Ala440Pro | |
| NM_001127510.3:c.1318G>C | NP_001120982.1:p.Ala440Pro | |
| NM_001127511.3:c.1264G>C | NP_001120983.2:p.Ala422Pro | |
| NM_001354895.2:c.1318G>C | NP_001341824.1:p.Ala440Pro | |
| NM_001354896.2:c.1318G>C | NP_001341825.1:p.Ala440Pro | |
| NM_001354897.2:c.1348G>C | NP_001341826.1:p.Ala450Pro | |
| NM_001354898.2:c.1243G>C | NP_001341827.1:p.Ala415Pro | |
| NM_001354899.2:c.1234G>C | NP_001341828.1:p.Ala412Pro | |
| NM_001354900.2:c.1141G>C | NP_001341829.1:p.Ala381Pro | |
| NM_001354901.2:c.1141G>C | NP_001341830.1:p.Ala381Pro | |
| NM_001354902.2:c.1045G>C | NP_001341831.1:p.Ala349Pro | |
| NM_001354903.2:c.1015G>C | NP_001341832.1:p.Ala339Pro | |
| NM_001354904.2:c.940G>C | NP_001341833.1:p.Ala314Pro | |
| NM_001354905.2:c.838G>C | NP_001341834.1:p.Ala280Pro | |
| NM_001354906.2:c.469G>C | NP_001341835.1:p.Ala157Pro |