Linked Data
dbSNP Id:
rs567288271
ExAC:
19:4816750 C / G
gnomAD v2:
19-4816750-C-G
gnomAD v3:
19-4816738-C-G
gnomAD v4:
19-4816738-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816738C>G , CM000681.2:g.4816738C>G | GRCh38 |
| NC_000019.9:g.4816750C>G , CM000681.1:g.4816750C>G | GRCh37 |
| NC_000019.8:g.4767750C>G | NCBI36 |
| NG_031998.1:g.20005G>C , LRG_358:g.20005G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1640G>C MANE Select | ENSP00000248244.4:p.Arg547Pro | |
| ENST00000248244.5:c.1640G>C | ENSP00000248244.4:p.Arg547Pro | |
| ENST00000621756.1:c.1223G>C | ENSP00000479467.1:p.Arg408Pro | |
| NM_182919.3:c.1640G>C , LRG_358t1:c.1640G>C | NP_891549.1:p.Arg547Pro | |
| NM_001385678.1:c.1598G>C | NP_001372607.1:p.Arg533Pro | |
| NM_001385679.1:c.1505G>C | NP_001372608.1:p.Arg502Pro | |
| NM_001385680.1:c.998G>C | NP_001372609.1:p.Arg333Pro | |
| NM_182919.4:c.1640G>C MANE Select | NP_891549.1:p.Arg547Pro |