Linked Data
dbSNP Id:
rs745503980
ExAC:
19:6697473 G / A
gnomAD v2:
19-6697473-G-A
gnomAD v3:
19-6697462-G-A
gnomAD v4:
19-6697462-G-A
COSMIC:
COSM4082602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697462G>A , CM000681.2:g.6697462G>A | GRCh38 |
| NC_000019.9:g.6697473G>A , CM000681.1:g.6697473G>A | GRCh37 |
| NC_000019.8:g.6648473G>A | NCBI36 |
| NG_009557.1:g.28190C>T , LRG_27:g.28190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1026C>T | ||
| ENST00000695652.1:c.2555C>T | ENSP00000512083.1:p.Ser852Leu | |
| ENST00000695653.1:c.587C>T | ENSP00000512084.1:p.Ser196Leu | |
| ENST00000695654.1:c.1802C>T | ENSP00000512085.1:p.Ser601Leu | |
| ENST00000695655.1:c.1619C>T | ENSP00000512086.1:n.1619C>T | |
| ENST00000695692.1:n.2042C>T | ||
| ENST00000245907.11:c.2678C>T MANE Select | ENSP00000245907.4:p.Ser893Leu | |
| ENST00000245907.10:c.2678C>T | ENSP00000245907.4:p.Ser893Leu | |
| ENST00000594005.1:n.254C>T | ||
| NM_000064.3:c.2678C>T | NP_000055.2:p.Ser893Leu | |
| NM_000064.4:c.2678C>T MANE Select | NP_000055.2:p.Ser893Leu |