Linked Data
dbSNP Id:
rs748710463
gnomAD v2:
19-6701327-A-T
gnomAD v3:
19-6701316-A-T
gnomAD v4:
19-6701316-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6701316A>T , CM000681.2:g.6701316A>T | GRCh38 |
| NC_000019.9:g.6701327A>T , CM000681.1:g.6701327A>T | GRCh37 |
| NC_000019.8:g.6652327A>T | NCBI36 |
| NG_009557.1:g.24336T>A , LRG_27:g.24336T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.788+811T>A | ||
| ENST00000695652.1:c.2317+811T>A | ENSP00000512083.1:n.2317+811T>A | |
| ENST00000695653.1:c.349+811T>A | ENSP00000512084.1:n.349+811T>A | |
| ENST00000695654.1:c.1564+811T>A | ENSP00000512085.1:n.1564+811T>A | |
| ENST00000695655.1:c.1381+811T>A | ENSP00000512086.1:n.1381+811T>A | |
| ENST00000695692.1:n.1804+811T>A | ||
| ENST00000245907.11:c.2440+811T>A MANE Select | ENSP00000245907.4:n.2440+811T>A | |
| ENST00000245907.10:c.2440+811T>A | ENSP00000245907.4:n.2440+811T>A | |
| ENST00000602053.1:n.488+811T>A | ||
| NM_000064.3:c.2440+811T>A | NP_000055.2:n.2440+811T>A | |
| NM_000064.4:c.2440+811T>A MANE Select | NP_000055.2:n.2440+811T>A |