Linked Data
dbSNP Id:
rs950713267
gnomAD v2:
2-241808905-G-A
gnomAD v3:
2-240869488-G-A
gnomAD v4:
2-240869488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869488G>A , CM000664.2:g.240869488G>A | GRCh38 |
| NC_000002.11:g.241808905G>A , CM000664.1:g.241808905G>A | GRCh37 |
| NC_000002.10:g.241457578G>A | NCBI36 |
| NG_008005.1:g.5744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+126G>A MANE Select | ENSP00000302620.3:n.358+126G>A | |
| ENST00000307503.3:c.358+126G>A | ENSP00000302620.3:n.358+126G>A | |
| ENST00000472436.1:n.378+126G>A | ||
| NM_000030.2:c.358+126G>A | NP_000021.1:n.358+126G>A | |
| XR_924060.1:n.405+745C>T | ||
| NM_000030.3:c.358+126G>A MANE Select | NP_000021.1:n.358+126G>A |