Linked Data
ClinVar Variation Id:
845608
dbSNP Id:
rs545826957
ExAC:
5:79970820 A / G
gnomAD v2:
5-79970820-A-G
gnomAD v3:
5-80675001-A-G
gnomAD v4:
5-80675001-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675001A>G , CM000667.2:g.80675001A>G | GRCh38 |
| NC_000005.9:g.79970820A>G , CM000667.1:g.79970820A>G | GRCh37 |
| NC_000005.8:g.80006576A>G | NCBI36 |
| NG_016607.1:g.25527A>G | |
| NG_016607.2:g.25527A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1046A>G MANE Select | ENSP00000265081.6:p.Lys349Arg | |
| ENST00000658259.1:c.878A>G | ENSP00000499617.1:p.Lys293Arg | |
| ENST00000667069.1:c.1046A>G | ENSP00000499502.1:p.Lys349Arg | |
| ENST00000670357.1:c.1046A>G | ENSP00000499791.1:p.Lys349Arg | |
| ENST00000265081.6:c.1046A>G | ENSP00000265081.6:p.Lys349Arg | |
| NM_002439.4:c.1046A>G | NP_002430.3:p.Lys349Arg | |
| NM_002439.5:c.1046A>G MANE Select | NP_002430.3:p.Lys349Arg |