Linked Data
ClinVar Variation Id:
205167
ClinVar RCV Id:
RCV000187096
dbSNP Id:
rs141950483
ExAC:
15:68504142 G / C
gnomAD v2:
15-68504142-G-C
gnomAD v3:
15-68211804-G-C
gnomAD v4:
15-68211804-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211804G>C , CM000677.2:g.68211804G>C | GRCh38 |
| NC_000015.9:g.68504142G>C , CM000677.1:g.68504142G>C | GRCh37 |
| NC_000015.8:g.66291196G>C | NCBI36 |
| NG_008764.2:g.50408C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.357C>G MANE Select | ENSP00000249806.5:p.Ile119Met | |
| ENST00000562767.2:c.84-14176C>G | ENSP00000456336.1:n.84-14176C>G | |
| ENST00000563917.2:n.199C>G | ||
| ENST00000565471.6:c.84-2045C>G | ENSP00000457384.1:n.84-2045C>G | |
| ENST00000635747.1:c.*260C>G | ENSP00000490627.1:n.*260C>G | |
| ENST00000636212.1:c.298-63C>G | ENSP00000489851.1:n.298-63C>G | |
| ENST00000636314.1:c.183-486C>G | ENSP00000490295.1:n.183-486C>G | |
| ENST00000636674.1:n.1340C>G | ||
| ENST00000636964.1:n.1529C>G | ||
| ENST00000637054.1:c.198+6732C>G | ENSP00000490807.1:n.198+6732C>G | |
| ENST00000637223.1:c.*201-486C>G | ENSP00000490010.1:n.*201-486C>G | |
| ENST00000637329.1:c.326C>G | ||
| ENST00000637450.1:c.*11C>G | ENSP00000490204.1:n.*11C>G | |
| ENST00000637494.1:c.199-486C>G | ENSP00000490057.1:n.199-486C>G | |
| ENST00000637667.1:c.258C>G | ENSP00000489843.1:p.Ile86Met | |
| ENST00000637823.1:c.224-161C>G | ||
| ENST00000637888.1:c.198+6732C>G | ENSP00000490546.1:n.198+6732C>G | |
| ENST00000638076.1:c.357C>G | ENSP00000490373.1:p.Ile119Met | |
| ENST00000638144.1:n.130-486C>G | ||
| ENST00000646164.1:c.38+6732C>G | ||
| ENST00000249806.9:c.357C>G | ENSP00000249806.5:p.Ile119Met | |
| ENST00000538696.5:c.453C>G | ENSP00000445770.1:p.Ile151Met | |
| ENST00000562767.1:c.84-14176C>G | ENSP00000456336.1:n.84-14176C>G | |
| ENST00000563917.1:n.138C>G | ||
| ENST00000564752.1:c.357C>G | ENSP00000457822.1:p.Ile119Met | |
| ENST00000565471.5:c.84-2045C>G | ENSP00000457384.1:n.84-2045C>G | |
| ENST00000566347.5:c.298-486C>G | ENSP00000457783.1:n.298-486C>G | |
| ENST00000567060.5:c.298-2084C>G | ENSP00000454818.1:n.298-2084C>G | |
| NM_017882.2:c.357C>G | NP_060352.1:p.Ile119Met | |
| XR_931861.1:n.460C>G | ||
| NM_017882.3:c.357C>G MANE Select | NP_060352.1:p.Ile119Met |