Linked Data
dbSNP Id:
rs775675347
ExAC:
18:55240488 G / C
gnomAD v2:
18-55240488-G-C
gnomAD v3:
18-57573256-G-C
gnomAD v4:
18-57573256-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57573256G>C , CM000680.2:g.57573256G>C | GRCh38 |
| NC_000018.9:g.55240488G>C , CM000680.1:g.55240488G>C | GRCh37 |
| NC_000018.8:g.53391486G>C | NCBI36 |
| NG_008175.1:g.18482C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592699.6:c.304C>G | ENSP00000466263.1:p.Pro102Ala | |
| ENST00000682485.1:n.416C>G | ||
| ENST00000262093.11:c.304C>G MANE Select | ENSP00000262093.6:p.Pro102Ala | |
| ENST00000382873.8:c.88C>G | ENSP00000372326.4:p.Pro30Ala | |
| ENST00000651787.1:n.410C>G | ||
| ENST00000652755.1:c.322C>G | ENSP00000498358.1:p.Pro108Ala | |
| ENST00000262093.9:c.304C>G | ENSP00000262093.5:p.Pro102Ala | |
| ENST00000382873.7:c.322C>G | ENSP00000372326.3:p.Pro108Ala | |
| ENST00000585494.5:c.304C>G | ENSP00000465243.1:p.Pro102Ala | |
| ENST00000585699.1:n.256C>G | ||
| ENST00000585747.1:c.304C>G | ENSP00000465717.1:p.Pro102Ala | |
| ENST00000585878.1:n.356C>G | ||
| ENST00000591215.5:c.88C>G | ENSP00000467461.1:p.Pro30Ala | |
| ENST00000592111.1:n.305C>G | ||
| ENST00000592699.5:c.304C>G | ENSP00000466263.1:p.Pro102Ala | |
| NM_000140.3:c.304C>G | NP_000131.2:p.Pro102Ala | |
| NM_001012515.2:c.322C>G | NP_001012533.1:p.Pro108Ala | |
| XM_011525881.1:c.322C>G | XP_011524183.1:p.Pro108Ala | |
| XM_011525882.1:c.88C>G | XP_011524184.1:p.Pro30Ala | |
| NM_000140.4:c.304C>G | NP_000131.2:p.Pro102Ala | |
| NM_001012515.3:c.322C>G | NP_001012533.1:p.Pro108Ala | |
| XM_011525882.2:c.88C>G | XP_011524184.1:p.Pro30Ala | |
| XM_017025614.2:c.304C>G | XP_016881103.1:p.Pro102Ala | |
| NM_000140.5:c.304C>G MANE Select | NP_000131.2:p.Pro102Ala | |
| NM_001012515.4:c.322C>G | NP_001012533.1:p.Pro108Ala | |
| NM_001371094.1:c.304C>G | NP_001358023.1:p.Pro102Ala | |
| NM_001371095.1:c.88C>G | NP_001358024.1:p.Pro30Ala | |
| NM_001374778.1:c.304C>G | NP_001361707.1:p.Pro102Ala |