Linked Data
ClinVar Variation Id:
2542495
ClinVar RCV Id:
RCV003261890
dbSNP Id:
rs1375638595
gnomAD v2:
5-54529035-T-G
gnomAD v3:
5-55233207-T-G
gnomAD v4:
5-55233207-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233207T>G , CM000667.2:g.55233207T>G | GRCh38 |
| NC_000005.9:g.54529035T>G , CM000667.1:g.54529035T>G | GRCh37 |
| NC_000005.8:g.54564792T>G | NCBI36 |
| NG_034201.1:g.5511A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.317A>C MANE Select | ENSP00000282572.4:p.Tyr106Ser | |
| ENST00000282572.4:c.317A>C | ENSP00000282572.4:p.Tyr106Ser | |
| ENST00000501463.2:c.317A>C | ENSP00000422485.1:p.Tyr106Ser | |
| NM_021147.4:c.317A>C | NP_066970.3:p.Tyr106Ser | |
| NR_125346.1:n.511A>C | ||
| NR_125347.1:n.511A>C | ||
| NM_021147.5:c.317A>C MANE Select | NP_066970.3:p.Tyr106Ser | |
| NR_125346.2:n.402A>C | ||
| NR_125347.2:n.402A>C |