Linked Data
dbSNP Id:
rs1424815243
gnomAD v2:
19-6679315-G-A
gnomAD v3:
19-6679304-G-A
gnomAD v4:
19-6679304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679304G>A , CM000681.2:g.6679304G>A | GRCh38 |
| NC_000019.9:g.6679315G>A , CM000681.1:g.6679315G>A | GRCh37 |
| NC_000019.8:g.6630315G>A | NCBI36 |
| NG_009557.1:g.46348C>T , LRG_27:g.46348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2895-96C>T | ||
| ENST00000695653.1:c.2456-96C>T | ENSP00000512084.1:n.2456-96C>T | |
| ENST00000695654.1:c.3572-96C>T | ENSP00000512085.1:n.3572-96C>T | |
| ENST00000695689.1:c.518-96C>T | ENSP00000512101.1:n.518-96C>T | |
| ENST00000695690.1:n.1612-96C>T | ||
| ENST00000695691.1:n.1408-96C>T | ||
| ENST00000245907.11:c.4547-96C>T MANE Select | ENSP00000245907.4:n.4547-96C>T | |
| ENST00000245907.10:c.4547-96C>T | ENSP00000245907.4:n.4547-96C>T | |
| ENST00000599668.1:n.166+78C>T | ||
| ENST00000599899.5:n.1506-96C>T | ||
| ENST00000601008.1:c.242-1346C>T | ENSP00000471384.1:n.242-1346C>T | |
| NM_000064.3:c.4547-96C>T | NP_000055.2:n.4547-96C>T | |
| NM_000064.4:c.4547-96C>T MANE Select | NP_000055.2:n.4547-96C>T |