Linked Data
dbSNP Id:
rs777574436
ExAC:
19:6697465 C / G
gnomAD v2:
19-6697465-C-G
gnomAD v3:
19-6697454-C-G
gnomAD v4:
19-6697454-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697454C>G , CM000681.2:g.6697454C>G | GRCh38 |
| NC_000019.9:g.6697465C>G , CM000681.1:g.6697465C>G | GRCh37 |
| NC_000019.8:g.6648465C>G | NCBI36 |
| NG_009557.1:g.28198G>C , LRG_27:g.28198G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1034G>C | ||
| ENST00000695652.1:c.2563G>C | ENSP00000512083.1:p.Val855Leu | |
| ENST00000695653.1:c.595G>C | ENSP00000512084.1:p.Val199Leu | |
| ENST00000695654.1:c.1810G>C | ENSP00000512085.1:p.Val604Leu | |
| ENST00000695655.1:c.1627G>C | ENSP00000512086.1:n.1627G>C | |
| ENST00000695692.1:n.2050G>C | ||
| ENST00000245907.11:c.2686G>C MANE Select | ENSP00000245907.4:p.Val896Leu | |
| ENST00000245907.10:c.2686G>C | ENSP00000245907.4:p.Val896Leu | |
| ENST00000594005.1:n.262G>C | ||
| NM_000064.3:c.2686G>C | NP_000055.2:p.Val896Leu | |
| NM_000064.4:c.2686G>C MANE Select | NP_000055.2:p.Val896Leu |