Linked Data
ClinVar Variation Id:
597348
ClinVar RCV Id:
RCV000733431
dbSNP Id:
rs765407252
ExAC:
5:149360159 A / G
gnomAD v2:
5-149360159-A-G
gnomAD v4:
5-149980596-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980596A>G , CM000667.2:g.149980596A>G | GRCh38 |
| NC_000005.9:g.149360159A>G , CM000667.1:g.149360159A>G | GRCh37 |
| NC_000005.8:g.149340352A>G | NCBI36 |
| NG_007147.2:g.21714A>G , LRG_684:g.21714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1003A>G MANE Select | ENSP00000286298.4:p.Ile335Val | |
| ENST00000286298.4:c.1003A>G | ENSP00000286298.4:p.Ile335Val | |
| ENST00000503336.1:c.372+2245A>G | ENSP00000426053.1:n.372+2245A>G | |
| NM_000112.3:c.1003A>G , LRG_684t1:c.1003A>G | NP_000103.2:p.Ile335Val | |
| XM_017009191.2:c.1003A>G | XP_016864680.1:p.Ile335Val | |
| NM_000112.4:c.1003A>G MANE Select | NP_000103.2:p.Ile335Val |