Linked Data
dbSNP Id:
rs946864348
gnomAD v2:
11-69463110-G-A
gnomAD v3:
11-69648342-G-A
gnomAD v4:
11-69648342-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648342G>A , CM000673.2:g.69648342G>A | GRCh38 |
| NC_000011.9:g.69463110G>A , CM000673.1:g.69463110G>A | GRCh37 |
| NC_000011.8:g.69172291G>A | NCBI36 |
| NG_007375.1:g.12238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+200G>A MANE Select | ENSP00000227507.2:n.723+200G>A | |
| ENST00000227507.2:c.723+200G>A | ENSP00000227507.2:n.723+200G>A | |
| ENST00000542367.1:n.186+200G>A | ||
| NM_053056.2:c.723+200G>A | NP_444284.1:n.723+200G>A | |
| XM_006718653.2:c.747+200G>A | XP_006718716.1:n.747+200G>A | |
| NM_053056.3:c.723+200G>A MANE Select | NP_444284.1:n.723+200G>A |