Linked Data
ClinVar Variation Id:
462910
dbSNP Id:
rs8177847
ExAC:
16:81129794 G / C
gnomAD v2:
16-81129794-G-C
gnomAD v3:
16-81096189-G-C
gnomAD v4:
16-81096189-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81096189G>C , CM000678.2:g.81096189G>C | GRCh38 |
| NC_000016.9:g.81129794G>C , CM000678.1:g.81129794G>C | GRCh37 |
| NC_000016.8:g.79687295G>C | NCBI36 |
| NG_016427.1:g.5187C>G , LRG_541:g.5187C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315467.9:c.90C>G MANE Select | ENSP00000319531.3:p.Pro30= | |
| ENST00000561801.2:c.69C>G | ENSP00000457645.2:p.Pro23= | |
| ENST00000564386.6:c.77C>G | ||
| ENST00000564536.2:c.90C>G | ENSP00000491651.1:p.Pro30= | |
| ENST00000569885.6:c.52C>G | ||
| ENST00000638192.1:c.73C>G | ||
| ENST00000638948.1:c.45C>G | ENSP00000491484.1:p.Pro15= | |
| ENST00000639169.1:c.90C>G | ENSP00000491127.1:p.Pro30= | |
| ENST00000639689.1:c.90C>G | ENSP00000492187.1:p.Pro30= | |
| ENST00000640345.1:c.90C>G | ENSP00000492798.1:p.Pro30= | |
| ENST00000640370.1:c.90C>G | ENSP00000492599.1:p.Pro30= | |
| ENST00000315467.7:c.90C>G | ENSP00000319531.3:p.Pro30= | |
| ENST00000561801.1:c.69C>G | ||
| ENST00000564386.5:c.74C>G | ||
| ENST00000564477.1:c.90C>G | ENSP00000455287.1:p.Pro30= | |
| ENST00000566566.1:c.90C>G | ENSP00000455019.1:p.Pro30= | |
| ENST00000569885.5:c.52C>G | ||
| NM_004483.4:c.90C>G , LRG_541t1:c.90C>G | NP_004474.2:p.Pro30= | |
| NR_033249.1:n.187C>G | ||
| XM_017023136.2:c.90C>G | XP_016878625.1:p.Pro30= | |
| NM_004483.5:c.90C>G MANE Select | NP_004474.2:p.Pro30= | |
| NR_033249.2:n.207C>G |