Linked Data
ClinVar Variation Id:
641780
dbSNP Id:
rs149277519
ExAC:
16:2096134 G / C
gnomAD v2:
16-2096134-G-C
gnomAD v3:
16-2046133-G-C
gnomAD v4:
16-2046133-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046133G>C , CM000678.2:g.2046133G>C | GRCh38 |
| NC_000016.9:g.2096134G>C , CM000678.1:g.2096134G>C | GRCh37 |
| NC_000016.8:g.2036135G>C | NCBI36 |
| NG_005895.1:g.1828G>C , LRG_487:g.1828G>C | |
| NG_008412.1:g.6734C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651522.1:c.58C>G | ENSP00000498290.1:p.Pro20Ala | |
| ENST00000651570.2:c.349C>G MANE Select | ENSP00000498421.1:p.Pro117Ala | |
| ENST00000651583.1:c.304C>G | ENSP00000498821.1:p.Pro102Ala | |
| ENST00000219066.5:c.373C>G | ENSP00000219066.1:p.Pro125Ala | |
| ENST00000561841.1:c.269C>G | ||
| ENST00000562120.1:n.82C>G | ||
| ENST00000566380.5:c.312C>G | ||
| ENST00000568513.5:c.173+147C>G | ||
| NM_002528.5:c.373C>G | NP_002519.1:p.Pro125Ala | |
| XM_011522505.1:c.373C>G | XP_011520807.1:p.Pro125Ala | |
| NM_001318193.1:c.373C>G | NP_001305122.1:p.Pro125Ala | |
| NM_001318194.1:c.24+147C>G | NP_001305123.1:n.24+147C>G | |
| NM_002528.6:c.373C>G | NP_002519.1:p.Pro125Ala | |
| XM_017023253.1:c.373C>G | XP_016878742.1:p.Pro125Ala | |
| NM_001318193.2:c.349C>G | NP_001305122.2:p.Pro117Ala | |
| NM_002528.7:c.349C>G MANE Select | NP_002519.2:p.Pro117Ala | |
| NM_001318194.2:c.24+147C>G | NP_001305123.1:n.24+147C>G |