Linked Data
ClinVar Variation Id:
1800643
ClinVar RCV Id:
RCV002461782
dbSNP Id:
rs1300842975
gnomAD v2:
10-43615153-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119705G>C , CM000672.2:g.43119705G>C | GRCh38 |
| NC_000010.10:g.43615153G>C , CM000672.1:g.43615153G>C | GRCh37 |
| NC_000010.9:g.42935159G>C | NCBI36 |
| NG_007489.1:g.47637G>C , LRG_518:g.47637G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2171G>C | ENSP00000480088.2:p.Trp724Ser | |
| ENST00000683007.1:n.2141G>C | ||
| ENST00000683872.1:n.2132G>C | ||
| ENST00000340058.6:c.2567G>C | ENSP00000344798.4:p.Trp856Ser | |
| ENST00000355710.8:c.2567G>C MANE Select | ENSP00000347942.3:p.Trp856Ser | |
| ENST00000671844.1:c.*1161G>C | ENSP00000500541.1:n.*1161G>C | |
| ENST00000672389.1:c.*1161G>C | ENSP00000500252.1:n.*1161G>C | |
| ENST00000340058.5:c.2567G>C | ENSP00000344798.4:p.Trp856Ser | |
| ENST00000355710.7:c.2567G>C | ENSP00000347942.3:p.Trp856Ser | |
| ENST00000615310.4:c.1293G>C | ENSP00000480088.1:p.Leu431= | |
| NM_020630.4:c.2567G>C , LRG_518t2:c.2567G>C | NP_065681.1:p.Trp856Ser | |
| NM_020975.4:c.2567G>C , LRG_518t1:c.2567G>C | NP_066124.1:p.Trp856Ser | |
| XM_011540027.1:c.2567G>C | XP_011538329.1:p.Trp856Ser | |
| NM_001355216.1:c.1805G>C | NP_001342145.1:p.Trp602Ser | |
| NM_020630.5:c.2567G>C | NP_065681.1:p.Trp856Ser | |
| NM_020975.5:c.2567G>C | NP_066124.1:p.Trp856Ser | |
| NM_020975.6:c.2567G>C MANE Select | NP_066124.1:p.Trp856Ser | |
| NM_020630.6:c.2567G>C | NP_065681.1:p.Trp856Ser |