Linked Data
dbSNP Id:
rs763155610
ExAC:
19:6697451 G / T
gnomAD v2:
19-6697451-G-T
gnomAD v4:
19-6697440-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697440G>T , CM000681.2:g.6697440G>T | GRCh38 |
| NC_000019.9:g.6697451G>T , CM000681.1:g.6697451G>T | GRCh37 |
| NC_000019.8:g.6648451G>T | NCBI36 |
| NG_009557.1:g.28212C>A , LRG_27:g.28212C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1048C>A | ||
| ENST00000695652.1:c.2577C>A | ENSP00000512083.1:p.Ile859= | |
| ENST00000695653.1:c.609C>A | ENSP00000512084.1:p.Ile203= | |
| ENST00000695654.1:c.1824C>A | ENSP00000512085.1:p.Ile608= | |
| ENST00000695655.1:c.1641C>A | ENSP00000512086.1:n.1641C>A | |
| ENST00000695692.1:n.2064C>A | ||
| ENST00000245907.11:c.2700C>A MANE Select | ENSP00000245907.4:p.Ile900= | |
| ENST00000245907.10:c.2700C>A | ENSP00000245907.4:p.Ile900= | |
| ENST00000594005.1:n.276C>A | ||
| NM_000064.3:c.2700C>A | NP_000055.2:p.Ile900= | |
| NM_000064.4:c.2700C>A MANE Select | NP_000055.2:p.Ile900= |