Linked Data
ClinVar Variation Id:
337158
dbSNP Id:
rs564792232
ExAC:
2:84670484 T / C
gnomAD v2:
2-84670484-T-C
gnomAD v3:
2-84443360-T-C
gnomAD v4:
2-84443360-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84443360T>C , CM000664.2:g.84443360T>C | GRCh38 |
| NC_000002.11:g.84670484T>C , CM000664.1:g.84670484T>C | GRCh37 |
| NC_000002.10:g.84523995T>C | NCBI36 |
| NG_016755.1:g.21103A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.242A>G MANE Select | ENSP00000377446.2:p.Lys81Arg | |
| ENST00000651342.1:c.242A>G | ENSP00000498471.1:p.Lys81Arg | |
| ENST00000393868.6:c.242A>G | ENSP00000377446.2:p.Lys81Arg | |
| ENST00000430989.1:n.219A>G | ||
| ENST00000442240.5:c.253A>G | ||
| ENST00000483605.5:n.321A>G | ||
| ENST00000491642.5:n.414A>G | ||
| NM_003849.3:c.242A>G | NP_003840.2:p.Lys81Arg | |
| NM_003849.4:c.242A>G MANE Select | NP_003840.2:p.Lys81Arg |