Linked Data
dbSNP Id:
rs1190237343
gnomAD v2:
19-6679553-C-T
gnomAD v3:
19-6679542-C-T
gnomAD v4:
19-6679542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679542C>T , CM000681.2:g.6679542C>T | GRCh38 |
| NC_000019.9:g.6679553C>T , CM000681.1:g.6679553C>T | GRCh37 |
| NC_000019.8:g.6630553C>T | NCBI36 |
| NG_009557.1:g.46110G>A , LRG_27:g.46110G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2805-46G>A | ||
| ENST00000695653.1:c.2366-46G>A | ENSP00000512084.1:n.2366-46G>A | |
| ENST00000695654.1:c.3482-46G>A | ENSP00000512085.1:n.3482-46G>A | |
| ENST00000695689.1:c.428-46G>A | ENSP00000512101.1:n.428-46G>A | |
| ENST00000695690.1:n.1522-46G>A | ||
| ENST00000695691.1:n.1318-46G>A | ||
| ENST00000245907.11:c.4457-46G>A MANE Select | ENSP00000245907.4:n.4457-46G>A | |
| ENST00000245907.10:c.4457-46G>A | ENSP00000245907.4:n.4457-46G>A | |
| ENST00000599668.1:n.52-46G>A | ||
| ENST00000599899.5:n.1416-46G>A | ||
| ENST00000601008.1:c.242-1584G>A | ENSP00000471384.1:n.242-1584G>A | |
| NM_000064.3:c.4457-46G>A | NP_000055.2:n.4457-46G>A | |
| NM_000064.4:c.4457-46G>A MANE Select | NP_000055.2:n.4457-46G>A |