Linked Data
dbSNP Id:
rs756210904
ExAC:
19:6713224 A / G
gnomAD v2:
19-6713224-A-G
gnomAD v4:
19-6713213-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713213A>G , CM000681.2:g.6713213A>G | GRCh38 |
| NC_000019.9:g.6713224A>G , CM000681.1:g.6713224A>G | GRCh37 |
| NC_000019.8:g.6664224A>G | NCBI36 |
| NG_009557.1:g.12439T>C , LRG_27:g.12439T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.856T>C | ENSP00000512083.1:p.Ser286Pro | |
| ENST00000695654.1:c.103T>C | ENSP00000512085.1:p.Ser35Pro | |
| ENST00000695692.1:n.303T>C | ||
| ENST00000245907.11:c.979T>C MANE Select | ENSP00000245907.4:p.Ser327Pro | |
| ENST00000245907.10:c.979T>C | ENSP00000245907.4:p.Ser327Pro | |
| ENST00000594270.5:n.103T>C | ||
| ENST00000595577.1:n.483T>C | ||
| ENST00000597442.5:n.229T>C | ||
| NM_000064.3:c.979T>C | NP_000055.2:p.Ser327Pro | |
| NM_000064.4:c.979T>C MANE Select | NP_000055.2:p.Ser327Pro |