Linked Data
dbSNP Id:
rs370533452
ExAC:
17:56350948 T / C
gnomAD v2:
17-56350948-T-C
gnomAD v3:
17-58273587-T-C
gnomAD v4:
17-58273587-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273587T>C , CM000679.2:g.58273587T>C | GRCh38 |
| NC_000017.10:g.56350948T>C , CM000679.1:g.56350948T>C | GRCh37 |
| NC_000017.9:g.53705947T>C | NCBI36 |
| NG_009629.1:g.12349A>G , LRG_84:g.12349A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.781A>G | ||
| ENST00000699291.1:c.573A>G | ENSP00000514272.1:p.Gln191= | |
| ENST00000699292.1:n.488A>G | ||
| ENST00000225275.4:c.1448A>G MANE Select | ENSP00000225275.3:p.Asn483Ser | |
| ENST00000225275.3:c.1448A>G | ENSP00000225275.3:p.Asn483Ser | |
| NM_000250.1:c.1448A>G , LRG_84t1:c.1448A>G | NP_000241.1:p.Asn483Ser | |
| XM_011524821.1:c.1634A>G | XP_011523123.1:p.Asn545Ser | |
| XM_011524822.1:c.1163A>G | XP_011523124.1:p.Asn388Ser | |
| XM_011524823.1:c.1473A>G | XP_011523125.1:p.Gln491= | |
| NM_000250.2:c.1448A>G MANE Select | NP_000241.1:p.Asn483Ser |