Linked Data
dbSNP Id:
rs748943819
ExAC:
19:4816824 C / G
gnomAD v2:
19-4816824-C-G
gnomAD v4:
19-4816812-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816812C>G , CM000681.2:g.4816812C>G | GRCh38 |
| NC_000019.9:g.4816824C>G , CM000681.1:g.4816824C>G | GRCh37 |
| NC_000019.8:g.4767824C>G | NCBI36 |
| NG_031998.1:g.19931G>C , LRG_358:g.19931G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1566G>C MANE Select | ENSP00000248244.4:p.Arg522Ser | |
| ENST00000248244.5:c.1566G>C | ENSP00000248244.4:p.Arg522Ser | |
| ENST00000621756.1:c.1149G>C | ENSP00000479467.1:p.Arg383Ser | |
| NM_182919.3:c.1566G>C , LRG_358t1:c.1566G>C | NP_891549.1:p.Arg522Ser | |
| NM_001385678.1:c.1524G>C | NP_001372607.1:p.Arg508Ser | |
| NM_001385679.1:c.1431G>C | NP_001372608.1:p.Arg477Ser | |
| NM_001385680.1:c.924G>C | NP_001372609.1:p.Arg308Ser | |
| NM_182919.4:c.1566G>C MANE Select | NP_891549.1:p.Arg522Ser |