Linked Data
ClinVar Variation Id:
7810
dbSNP Id:
rs121434478
ExAC:
2:216209551 A / G
gnomAD v2:
2-216209551-A-G
gnomAD v3:
2-215344828-A-G
gnomAD v4:
2-215344828-A-G
PubMed:
PMID:15114530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215344828A>G , CM000664.2:g.215344828A>G | GRCh38 |
| NC_000002.11:g.216209551A>G , CM000664.1:g.216209551A>G | GRCh37 |
| NC_000002.10:g.215917796A>G | NCBI36 |
| NG_013002.1:g.37873A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236959.14:c.1277A>G MANE Select | ENSP00000236959.9:p.Lys426Arg | |
| ENST00000236959.13:c.1277A>G | ENSP00000236959.9:p.Lys426Arg | |
| ENST00000426233.1:c.282A>G | ||
| ENST00000435675.5:c.1274A>G | ENSP00000415935.1:p.Lys425Arg | |
| ENST00000443953.5:c.*1374A>G | ENSP00000406792.1:n.*1374A>G | |
| ENST00000446622.5:n.357A>G | ||
| ENST00000459796.1:n.88A>G | ||
| ENST00000467388.1:n.189A>G | ||
| ENST00000479093.5:n.192A>G | ||
| NM_004044.6:c.1277A>G | NP_004035.2:p.Lys426Arg | |
| XM_017004187.2:c.1277A>G | XP_016859676.1:p.Lys426Arg | |
| XM_024452919.1:c.1100A>G | XP_024308687.1:p.Lys367Arg | |
| NM_004044.7:c.1277A>G MANE Select | NP_004035.2:p.Lys426Arg |