Linked Data
ClinVar Variation Id:
45582
ClinVar RCV Id:
RCV000157581
RCV000172735
RCV000253868
RCV000624752
RCV001081141
RCV000852616
RCV000038798
dbSNP Id:
rs141033098
ExAC:
10:75855425 A / C
gnomAD v2:
10-75855425-A-C
gnomAD v3:
10-74095667-A-C
gnomAD v4:
10-74095667-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74095667A>C , CM000672.2:g.74095667A>C | GRCh38 |
| NC_000010.10:g.75855425A>C , CM000672.1:g.75855425A>C | GRCh37 |
| NC_000010.9:g.75525431A>C | NCBI36 |
| NG_008868.1:g.102554A>C , LRG_383:g.102554A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.1555A>C MANE Select | ENSP00000211998.5:p.Ile519Leu | |
| ENST00000211998.8:c.1555A>C | ENSP00000211998.4:p.Ile519Leu | |
| ENST00000372755.7:c.1555A>C | ENSP00000361841.3:p.Ile519Leu | |
| ENST00000436396.1:c.571A>C | ENSP00000415489.1:p.Ile191Leu | |
| ENST00000478896.2:n.332-5387A>C | ||
| ENST00000623461.3:n.4358A>C | ||
| ENST00000624354.3:c.*1310A>C | ENSP00000485551.1:n.*1310A>C | |
| NM_003373.3:c.1555A>C | NP_003364.1:p.Ile519Leu | |
| NM_014000.2:c.1555A>C , LRG_383t1:c.1555A>C | NP_054706.1:p.Ile519Leu | |
| XM_005270142.1:c.1558A>C | XP_005270199.1:p.Ile520Leu | |
| XM_005270143.1:c.1558A>C | XP_005270200.1:p.Ile520Leu | |
| NM_003373.4:c.1555A>C | NP_003364.1:p.Ile519Leu | |
| NM_014000.3:c.1555A>C MANE Select | NP_054706.1:p.Ile519Leu |