Linked Data
dbSNP Id:
rs1242084103
gnomAD v2:
11-69463021-G-A
gnomAD v3:
11-69648253-G-A
gnomAD v4:
11-69648253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648253G>A , CM000673.2:g.69648253G>A | GRCh38 |
| NC_000011.9:g.69463021G>A , CM000673.1:g.69463021G>A | GRCh37 |
| NC_000011.8:g.69172202G>A | NCBI36 |
| NG_007375.1:g.12149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+111G>A MANE Select | ENSP00000227507.2:n.723+111G>A | |
| ENST00000227507.2:c.723+111G>A | ENSP00000227507.2:n.723+111G>A | |
| ENST00000542367.1:n.186+111G>A | ||
| NM_053056.2:c.723+111G>A | NP_444284.1:n.723+111G>A | |
| XM_006718653.2:c.747+111G>A | XP_006718716.1:n.747+111G>A | |
| NM_053056.3:c.723+111G>A MANE Select | NP_444284.1:n.723+111G>A |