Linked Data
ClinVar Variation Id:
17539
ClinVar RCV Id:
RCV000019091
RCV000020117
RCV000626584
RCV000690053
RCV000711241
RCV001196224
RCV004528125
dbSNP Id:
rs80356690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330788C>G , CM000669.2:g.143330788C>G | GRCh38 |
| NC_000007.13:g.143027881C>G , CM000669.1:g.143027881C>G | GRCh37 |
| NC_000007.12:g.142738003C>G | NCBI36 |
| NG_009815.1:g.19663C>G | |
| NG_009815.2:g.19663C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.870C>G | ENSP00000498052.2:p.Ile290Met | |
| ENST00000343257.7:c.870C>G MANE Select | ENSP00000339867.2:p.Ile290Met | |
| ENST00000432192.6:c.694C>G | ||
| ENST00000455478.6:c.458C>G | ENSP00000400027.2:n.458C>G | |
| ENST00000650516.1:c.870C>G | ENSP00000498052.1:p.Ile290Met | |
| ENST00000343257.6:c.870C>G | ENSP00000339867.2:p.Ile290Met | |
| ENST00000432192.5:c.384C>G | ||
| ENST00000455478.5:c.462C>G | ||
| ENST00000495612.1:n.171C>G | ||
| NM_000083.2:c.870C>G | NP_000074.2:p.Ile290Met | |
| NR_046453.1:n.960C>G | ||
| XM_011515781.1:c.870C>G | XP_011514083.1:p.Ile290Met | |
| XM_017011739.1:c.420C>G | XP_016867228.1:p.Ile140Met | |
| XM_017011740.1:c.420C>G | XP_016867229.1:p.Ile140Met | |
| NM_000083.3:c.870C>G MANE Select | NP_000074.3:p.Ile290Met | |
| NR_046453.2:n.975C>G |