Linked Data
dbSNP Id:
rs1277047907
gnomAD v2:
19-6709665-T-C
gnomAD v3:
19-6709654-T-C
gnomAD v4:
19-6709654-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709654T>C , CM000681.2:g.6709654T>C | GRCh38 |
| NC_000019.9:g.6709665T>C , CM000681.1:g.6709665T>C | GRCh37 |
| NC_000019.8:g.6660665T>C | NCBI36 |
| NG_009557.1:g.15998A>G , LRG_27:g.15998A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695652.1:c.1722+30A>G | ENSP00000512083.1:n.1722+30A>G | |
| ENST00000695654.1:c.969+30A>G | ENSP00000512085.1:n.969+30A>G | |
| ENST00000695655.1:c.786+30A>G | ENSP00000512086.1:n.786+30A>G | |
| ENST00000695692.1:n.1209+30A>G | ||
| ENST00000245907.11:c.1845+30A>G MANE Select | ENSP00000245907.4:n.1845+30A>G | |
| ENST00000245907.10:c.1845+30A>G | ENSP00000245907.4:n.1845+30A>G | |
| NM_000064.3:c.1845+30A>G | NP_000055.2:n.1845+30A>G | |
| NM_000064.4:c.1845+30A>G MANE Select | NP_000055.2:n.1845+30A>G |