Linked Data
dbSNP Id:
rs761101621
ExAC:
17:56350215 T / C
gnomAD v2:
17-56350215-T-C
gnomAD v4:
17-58272854-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58272854T>C , CM000679.2:g.58272854T>C | GRCh38 |
| NC_000017.10:g.56350215T>C , CM000679.1:g.56350215T>C | GRCh37 |
| NC_000017.9:g.53705214T>C | NCBI36 |
| NG_009629.1:g.13082A>G , LRG_84:g.13082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.1019A>G | ||
| ENST00000699291.1:c.811A>G | ENSP00000514272.1:n.811A>G | |
| ENST00000699292.1:n.1221A>G | ||
| ENST00000225275.4:c.1686A>G MANE Select | ENSP00000225275.3:p.Gln562= | |
| ENST00000225275.3:c.1686A>G | ENSP00000225275.3:p.Gln562= | |
| ENST00000577220.1:c.144A>G | ENSP00000464668.1:p.Gln48= | |
| NM_000250.1:c.1686A>G , LRG_84t1:c.1686A>G | NP_000241.1:p.Gln562= | |
| XM_011524821.1:c.1872A>G | XP_011523123.1:p.Gln624= | |
| XM_011524822.1:c.1401A>G | XP_011523124.1:p.Gln467= | |
| NM_000250.2:c.1686A>G MANE Select | NP_000241.1:p.Gln562= |