Linked Data
dbSNP Id:
rs768703212
ExAC:
19:4816718 C / T
gnomAD v2:
19-4816718-C-T
gnomAD v4:
19-4816706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816706C>T , CM000681.2:g.4816706C>T | GRCh38 |
| NC_000019.9:g.4816718C>T , CM000681.1:g.4816718C>T | GRCh37 |
| NC_000019.8:g.4767718C>T | NCBI36 |
| NG_031998.1:g.20037G>A , LRG_358:g.20037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1672G>A MANE Select | ENSP00000248244.4:p.Gly558Ser | |
| ENST00000248244.5:c.1672G>A | ENSP00000248244.4:p.Gly558Ser | |
| ENST00000621756.1:c.1255G>A | ENSP00000479467.1:p.Gly419Ser | |
| NM_182919.3:c.1672G>A , LRG_358t1:c.1672G>A | NP_891549.1:p.Gly558Ser | |
| NM_001385678.1:c.1630G>A | NP_001372607.1:p.Gly544Ser | |
| NM_001385679.1:c.1537G>A | NP_001372608.1:p.Gly513Ser | |
| NM_001385680.1:c.1030G>A | NP_001372609.1:p.Gly344Ser | |
| NM_182919.4:c.1672G>A MANE Select | NP_891549.1:p.Gly558Ser |