Linked Data
dbSNP Id:
rs774225442
ExAC:
19:4816430 A / G
gnomAD v2:
19-4816430-A-G
gnomAD v3:
19-4816418-A-G
gnomAD v4:
19-4816418-A-G
COSMIC:
COSM5973045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816418A>G , CM000681.2:g.4816418A>G | GRCh38 |
| NC_000019.9:g.4816430A>G , CM000681.1:g.4816430A>G | GRCh37 |
| NC_000019.8:g.4767430A>G | NCBI36 |
| NG_031998.1:g.20325T>C , LRG_358:g.20325T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1960T>C MANE Select | ENSP00000248244.4:p.Ser654Pro | |
| ENST00000248244.5:c.1960T>C | ENSP00000248244.4:p.Ser654Pro | |
| ENST00000621756.1:c.1480-18T>C | ENSP00000479467.1:n.1480-18T>C | |
| NM_182919.3:c.1960T>C , LRG_358t1:c.1960T>C | NP_891549.1:p.Ser654Pro | |
| NM_001385678.1:c.1918T>C | NP_001372607.1:p.Ser640Pro | |
| NM_001385679.1:c.1825T>C | NP_001372608.1:p.Ser609Pro | |
| NM_001385680.1:c.1318T>C | NP_001372609.1:p.Ser440Pro | |
| NM_182919.4:c.1960T>C MANE Select | NP_891549.1:p.Ser654Pro |