Linked Data
dbSNP Id:
rs142034772
ExAC:
17:56350829 G / C
gnomAD v2:
17-56350829-G-C
gnomAD v4:
17-58273468-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273468G>C , CM000679.2:g.58273468G>C | GRCh38 |
| NC_000017.10:g.56350829G>C , CM000679.1:g.56350829G>C | GRCh37 |
| NC_000017.9:g.53705828G>C | NCBI36 |
| NG_009629.1:g.12468C>G , LRG_84:g.12468C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.900C>G | ||
| ENST00000699291.1:c.692C>G | ENSP00000514272.1:n.692C>G | |
| ENST00000699292.1:n.607C>G | ||
| ENST00000225275.4:c.1567C>G MANE Select | ENSP00000225275.3:p.Pro523Ala | |
| ENST00000225275.3:c.1567C>G | ENSP00000225275.3:p.Pro523Ala | |
| ENST00000577220.1:c.25C>G | ENSP00000464668.1:p.Pro9Ala | |
| NM_000250.1:c.1567C>G , LRG_84t1:c.1567C>G | NP_000241.1:p.Pro523Ala | |
| XM_011524821.1:c.1753C>G | XP_011523123.1:p.Pro585Ala | |
| XM_011524822.1:c.1282C>G | XP_011523124.1:p.Pro428Ala | |
| XM_011524823.1:c.*116C>G | XP_011523125.1:n.*116C>G | |
| NM_000250.2:c.1567C>G MANE Select | NP_000241.1:p.Pro523Ala |