Linked Data
ClinVar Variation Id:
2000171
ClinVar RCV Id:
RCV002824323
dbSNP Id:
rs1488154964
gnomAD v2:
5-54529156-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233328A>G , CM000667.2:g.55233328A>G | GRCh38 |
| NC_000005.9:g.54529156A>G , CM000667.1:g.54529156A>G | GRCh37 |
| NC_000005.8:g.54564913A>G | NCBI36 |
| NG_034201.1:g.5390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.196T>C MANE Select | ENSP00000282572.4:p.Ser66Pro | |
| ENST00000282572.4:c.196T>C | ENSP00000282572.4:p.Ser66Pro | |
| ENST00000501463.2:c.196T>C | ENSP00000422485.1:p.Ser66Pro | |
| NM_021147.4:c.196T>C | NP_066970.3:p.Ser66Pro | |
| NR_125346.1:n.390T>C | ||
| NR_125347.1:n.390T>C | ||
| NM_021147.5:c.196T>C MANE Select | NP_066970.3:p.Ser66Pro | |
| NR_125346.2:n.281T>C | ||
| NR_125347.2:n.281T>C |