Linked Data
dbSNP Id:
rs751198127
ExAC:
19:6697687 A / G
gnomAD v2:
19-6697687-A-G
gnomAD v3:
19-6697676-A-G
gnomAD v4:
19-6697676-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697676A>G , CM000681.2:g.6697676A>G | GRCh38 |
| NC_000019.9:g.6697687A>G , CM000681.1:g.6697687A>G | GRCh37 |
| NC_000019.8:g.6648687A>G | NCBI36 |
| NG_009557.1:g.27976T>C , LRG_27:g.27976T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.907T>C | ||
| ENST00000695652.1:c.2436T>C | ENSP00000512083.1:p.Asn812= | |
| ENST00000695653.1:c.468T>C | ENSP00000512084.1:p.Asn156= | |
| ENST00000695654.1:c.1683T>C | ENSP00000512085.1:p.Asn561= | |
| ENST00000695655.1:c.1500T>C | ENSP00000512086.1:n.1500T>C | |
| ENST00000695692.1:n.1923T>C | ||
| ENST00000245907.11:c.2559T>C MANE Select | ENSP00000245907.4:p.Asn853= | |
| ENST00000245907.10:c.2559T>C | ENSP00000245907.4:p.Asn853= | |
| ENST00000594005.1:n.40T>C | ||
| ENST00000602053.1:n.607T>C | ||
| NM_000064.3:c.2559T>C | NP_000055.2:p.Asn853= | |
| NM_000064.4:c.2559T>C MANE Select | NP_000055.2:p.Asn853= |