Linked Data
dbSNP Id:
rs772142244
ExAC:
19:6697725 G / A
gnomAD v2:
19-6697725-G-A
gnomAD v4:
19-6697714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697714G>A , CM000681.2:g.6697714G>A | GRCh38 |
| NC_000019.9:g.6697725G>A , CM000681.1:g.6697725G>A | GRCh37 |
| NC_000019.8:g.6648725G>A | NCBI36 |
| NG_009557.1:g.27938C>T , LRG_27:g.27938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.869C>T | ||
| ENST00000695652.1:c.2398C>T | ENSP00000512083.1:p.Arg800Ter | |
| ENST00000695653.1:c.430C>T | ENSP00000512084.1:p.Arg144Ter | |
| ENST00000695654.1:c.1645C>T | ENSP00000512085.1:p.Arg549Ter | |
| ENST00000695655.1:c.1462C>T | ENSP00000512086.1:n.1462C>T | |
| ENST00000695692.1:n.1885C>T | ||
| ENST00000245907.11:c.2521C>T MANE Select | ENSP00000245907.4:p.Arg841Ter | |
| ENST00000245907.10:c.2521C>T | ENSP00000245907.4:p.Arg841Ter | |
| ENST00000594005.1:n.2C>T | ||
| ENST00000602053.1:n.569C>T | ||
| NM_000064.3:c.2521C>T | NP_000055.2:p.Arg841Ter | |
| NM_000064.4:c.2521C>T MANE Select | NP_000055.2:p.Arg841Ter |