Linked Data
ClinVar Variation Id:
883022
ClinVar RCV Id:
RCV001113154
dbSNP Id:
rs1370716721
gnomAD v3:
13-113118989-T-C
gnomAD v4:
13-113118989-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118989T>C , CM000675.2:g.113118989T>C | GRCh38 |
| NC_000013.10:g.113773303T>C , CM000675.1:g.113773303T>C | GRCh37 |
| NC_000013.9:g.112821304T>C | NCBI36 |
| NG_009258.1:g.1191T>C , LRG_548:g.1191T>C | |
| NG_009262.1:g.18199T>C , LRG_554:g.18199T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1316T>C MANE Select | ENSP00000329546.4:p.Leu439Pro | |
| ENST00000346342.7:c.1316T>C | ENSP00000329546.3:p.Leu439Pro | |
| ENST00000375581.3:c.1382T>C | ENSP00000364731.3:p.Leu461Pro | |
| ENST00000541084.5:c.1130T>C | ENSP00000442051.2:p.Leu377Pro | |
| NM_000131.4:c.1382T>C , LRG_554t1:c.1382T>C | NP_000122.1:p.Leu461Pro | |
| NM_001267554.1:c.1130T>C | NP_001254483.1:p.Leu377Pro | |
| NM_019616.3:c.1316T>C , LRG_554t2:c.1316T>C | NP_062562.1:p.Leu439Pro | |
| NR_051961.1:n.1403T>C | ||
| XM_006719963.2:c.1175T>C | XP_006720026.1:p.Leu392Pro | |
| XM_011537474.1:c.1424T>C | XP_011535776.1:p.Leu475Pro | |
| XM_011537475.1:c.1238T>C | XP_011535777.1:p.Leu413Pro | |
| XM_011537476.1:c.1076T>C | XP_011535778.1:p.Leu359Pro | |
| XM_011537477.1:c.1385T>C | XP_011535779.1:p.Leu462Pro | |
| XM_006719963.3:c.1220T>C | XP_006720026.2:p.Leu407Pro | |
| XM_011537474.2:c.1469T>C | XP_011535776.2:p.Leu490Pro | |
| XM_011537475.2:c.1283T>C | XP_011535777.2:p.Leu428Pro | |
| XM_011537476.2:c.1076T>C | XP_011535778.1:p.Leu359Pro | |
| NM_019616.4:c.1316T>C MANE Select | NP_062562.1:p.Leu439Pro | |
| NR_051961.2:n.1400T>C | ||
| NM_001267554.2:c.1130T>C | NP_001254483.1:p.Leu377Pro |