Linked Data
ClinVar Variation Id:
541999
ClinVar RCV Id:
RCV000652362
dbSNP Id:
rs56083215
ExAC:
8:48775008 T / C
gnomAD:
8:48775008 T / C
COSMIC:
COSM4588131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47862447T>C , CM000670.2:g.47862447T>C | GRCh38 |
| NC_000008.10:g.48775008T>C , CM000670.1:g.48775008T>C | GRCh37 |
| NC_000008.9:g.48937561T>C | NCBI36 |
| NG_023435.1:g.102737A>G , LRG_162:g.102737A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314191.7:c.5845A>G MANE Select | ENSP00000313420.3:p.Ile1949Val | |
| ENST00000314191.6:c.5845A>G | ENSP00000313420.3:p.Ile1949Val | |
| ENST00000338368.7:c.5845A>G | ENSP00000345182.4:p.Ile1949Val | |
| ENST00000546304.1:n.511A>G | ||
| NM_001081640.1:c.5845A>G | NP_001075109.1:p.Ile1949Val | |
| NM_006904.6:c.5845A>G , LRG_162t1:c.5845A>G | NP_008835.5:p.Ile1949Val | |
| XM_011517567.1:c.5845A>G | XP_011515869.1:p.Ile1949Val | |
| XM_011517568.1:c.5845A>G | XP_011515870.1:p.Ile1949Val | |
| NM_001081640.2:c.5845A>G | NP_001075109.1:p.Ile1949Val | |
| NM_006904.7:c.5845A>G MANE Select | NP_008835.5:p.Ile1949Val |