Linked Data
ClinVar Variation Id:
1020171
ClinVar RCV Id:
RCV001319707
dbSNP Id:
rs892790252
gnomAD v2:
5-54529071-T-C
gnomAD v3:
5-55233243-T-C
gnomAD v4:
5-55233243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233243T>C , CM000667.2:g.55233243T>C | GRCh38 |
| NC_000005.9:g.54529071T>C , CM000667.1:g.54529071T>C | GRCh37 |
| NC_000005.8:g.54564828T>C | NCBI36 |
| NG_034201.1:g.5475A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.281A>G MANE Select | ENSP00000282572.4:p.Asp94Gly | |
| ENST00000282572.4:c.281A>G | ENSP00000282572.4:p.Asp94Gly | |
| ENST00000501463.2:c.281A>G | ENSP00000422485.1:p.Asp94Gly | |
| NM_021147.4:c.281A>G | NP_066970.3:p.Asp94Gly | |
| NR_125346.1:n.475A>G | ||
| NR_125347.1:n.475A>G | ||
| NM_021147.5:c.281A>G MANE Select | NP_066970.3:p.Asp94Gly | |
| NR_125346.2:n.366A>G | ||
| NR_125347.2:n.366A>G |