Linked Data
ClinVar Variation Id:
1176269
ClinVar RCV Id:
RCV001531709
dbSNP Id:
rs1459161789
gnomAD v2:
10-112361874-A-G
gnomAD v3:
10-110602116-A-G
gnomAD v4:
10-110602116-A-G
COSMIC:
COSM3665492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602116A>G , CM000672.2:g.110602116A>G | GRCh38 |
| NC_000010.10:g.112361874A>G , CM000672.1:g.112361874A>G | GRCh37 |
| NC_000010.9:g.112351864A>G | NCBI36 |
| NG_012217.1:g.39426A>G , LRG_774:g.39426A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5276A>G | ||
| ENST00000685743.1:n.2751A>G | ||
| ENST00000686057.1:n.1394A>G | ||
| ENST00000689321.1:n.2006A>G | ||
| ENST00000689986.1:n.832A>G | ||
| ENST00000361804.5:c.3043A>G MANE Select | ENSP00000354720.5:p.Met1015Val | |
| ENST00000361804.4:c.3043A>G | ENSP00000354720.4:p.Met1015Val | |
| NM_005445.3:c.3043A>G , LRG_774t1:c.3043A>G | NP_005436.1:p.Met1015Val | |
| NM_005445.4:c.3043A>G MANE Select | NP_005436.1:p.Met1015Val |