Linked Data
dbSNP Id:
rs1306946751
gnomAD v2:
19-7593931-C-G
gnomAD v3:
19-7529045-C-G
gnomAD v4:
19-7529045-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529045C>G , CM000681.2:g.7529045C>G | GRCh38 |
| NC_000019.9:g.7593931C>G , CM000681.1:g.7593931C>G | GRCh37 |
| NC_000019.8:g.7499931C>G | NCBI36 |
| NG_015806.1:g.11436C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1135-56C>G MANE Select | ENSP00000264079.5:n.1135-56C>G | |
| ENST00000264079.10:c.1135-56C>G | ENSP00000264079.5:n.1135-56C>G | |
| ENST00000394321.9:n.1450-56C>G | ||
| ENST00000594692.1:n.75C>G | ||
| ENST00000595860.5:n.318-56C>G | ||
| ENST00000599334.1:c.12-56C>G | ||
| NM_020533.2:c.1135-56C>G | NP_065394.1:n.1135-56C>G | |
| NM_020533.3:c.1135-56C>G MANE Select | NP_065394.1:n.1135-56C>G |