Linked Data
ClinVar Variation Id:
12001
ClinVar RCV Id:
RCV000012781
dbSNP Id:
rs104894566
gnomAD v4:
17-42901105-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901105T>C , CM000679.2:g.42901105T>C | GRCh38 |
| NC_000017.10:g.41053122T>C , CM000679.1:g.41053122T>C | GRCh37 |
| NC_000017.9:g.38306648T>C | NCBI36 |
| NG_011808.1:g.5308T>C , LRG_147:g.5308T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.229T>C MANE Select | ENSP00000253801.1:p.Trp77Arg | |
| ENST00000253801.6:c.229T>C | ENSP00000253801.1:p.Trp77Arg | |
| ENST00000585489.1:c.229T>C | ENSP00000466202.1:p.Trp77Arg | |
| ENST00000588481.1:n.294T>C | ||
| ENST00000592383.5:c.229T>C | ENSP00000465958.1:p.Trp77Arg | |
| NM_000151.3:c.229T>C | NP_000142.2:p.Trp77Arg | |
| NM_001270397.1:c.229T>C | NP_001257326.1:p.Trp77Arg | |
| NM_000151.4:c.229T>C MANE Select | NP_000142.2:p.Trp77Arg | |
| NM_001270397.2:c.229T>C | NP_001257326.1:p.Trp77Arg |