Linked Data
dbSNP Id:
rs200033280
gnomAD v2:
19-7592635-T-G
gnomAD v3:
19-7527749-T-G
gnomAD v4:
19-7527749-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527749T>G , CM000681.2:g.7527749T>G | GRCh38 |
| NC_000019.9:g.7592635T>G , CM000681.1:g.7592635T>G | GRCh37 |
| NC_000019.8:g.7498635T>G | NCBI36 |
| NG_015806.1:g.10140T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.681-115T>G MANE Select | ENSP00000264079.5:n.681-115T>G | |
| ENST00000264079.10:c.681-115T>G | ENSP00000264079.5:n.681-115T>G | |
| ENST00000394321.9:n.881T>G | ||
| ENST00000598406.1:n.622T>G | ||
| ENST00000601003.1:c.572-115T>G | ENSP00000469074.1:n.572-115T>G | |
| NM_020533.2:c.681-115T>G | NP_065394.1:n.681-115T>G | |
| NM_020533.3:c.681-115T>G MANE Select | NP_065394.1:n.681-115T>G |