Linked Data
ClinVar Variation Id:
644509
dbSNP Id:
rs748757403
ExAC:
5:54529290 T / C
gnomAD v2:
5-54529290-T-C
gnomAD v3:
5-55233462-T-C
gnomAD v4:
5-55233462-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233462T>C , CM000667.2:g.55233462T>C | GRCh38 |
| NC_000005.9:g.54529290T>C , CM000667.1:g.54529290T>C | GRCh37 |
| NC_000005.8:g.54565047T>C | NCBI36 |
| NG_034201.1:g.5256A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.62A>G MANE Select | ENSP00000282572.4:p.Asn21Ser | |
| ENST00000282572.4:c.62A>G | ENSP00000282572.4:p.Asn21Ser | |
| ENST00000501463.2:c.62A>G | ENSP00000422485.1:p.Asn21Ser | |
| NM_021147.4:c.62A>G | NP_066970.3:p.Asn21Ser | |
| NR_125346.1:n.256A>G | ||
| NR_125347.1:n.256A>G | ||
| NM_021147.5:c.62A>G MANE Select | NP_066970.3:p.Asn21Ser | |
| NR_125346.2:n.147A>G | ||
| NR_125347.2:n.147A>G |