Linked Data
dbSNP Id:
rs755936126
ExAC:
19:6697457 A / G
gnomAD v2:
19-6697457-A-G
gnomAD v3:
19-6697446-A-G
gnomAD v4:
19-6697446-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697446A>G , CM000681.2:g.6697446A>G | GRCh38 |
| NC_000019.9:g.6697457A>G , CM000681.1:g.6697457A>G | GRCh37 |
| NC_000019.8:g.6648457A>G | NCBI36 |
| NG_009557.1:g.28206T>C , LRG_27:g.28206T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.1042T>C | ||
| ENST00000695652.1:c.2571T>C | ENSP00000512083.1:p.Tyr857= | |
| ENST00000695653.1:c.603T>C | ENSP00000512084.1:p.Tyr201= | |
| ENST00000695654.1:c.1818T>C | ENSP00000512085.1:p.Tyr606= | |
| ENST00000695655.1:c.1635T>C | ENSP00000512086.1:n.1635T>C | |
| ENST00000695692.1:n.2058T>C | ||
| ENST00000245907.11:c.2694T>C MANE Select | ENSP00000245907.4:p.Tyr898= | |
| ENST00000245907.10:c.2694T>C | ENSP00000245907.4:p.Tyr898= | |
| ENST00000594005.1:n.270T>C | ||
| NM_000064.3:c.2694T>C | NP_000055.2:p.Tyr898= | |
| NM_000064.4:c.2694T>C MANE Select | NP_000055.2:p.Tyr898= |