Linked Data
dbSNP Id:
rs3731685
gnomAD v2:
2-109003654-G-A
gnomAD v3:
2-108387198-G-A
gnomAD v4:
2-108387198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108387198G>A , CM000664.2:g.108387198G>A | GRCh38 |
| NC_000002.11:g.109003654G>A , CM000664.1:g.109003654G>A | GRCh37 |
| NC_000002.10:g.108370086G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272452.7:c.797-122G>A MANE Select | ENSP00000272452.2:n.797-122G>A | |
| ENST00000272452.6:c.797-122G>A | ENSP00000272452.2:n.797-122G>A | |
| ENST00000409309.3:c.572-122G>A | ENSP00000387225.3:n.572-122G>A | |
| NM_006588.2:c.797-122G>A | NP_006579.2:n.797-122G>A | |
| XM_005263919.2:c.572-122G>A | XP_005263976.1:n.572-122G>A | |
| NM_001321770.1:c.572-122G>A | NP_001308699.1:n.572-122G>A | |
| NM_006588.3:c.797-122G>A | NP_006579.2:n.797-122G>A | |
| NR_135776.1:n.1049-122G>A | ||
| NR_135779.1:n.778-122G>A | ||
| XM_017003807.1:c.527-122G>A | XP_016859296.1:n.527-122G>A | |
| NM_006588.4:c.797-122G>A MANE Select | NP_006579.2:n.797-122G>A | |
| NM_001321770.2:c.572-122G>A | NP_001308699.1:n.572-122G>A | |
| NR_135776.2:n.1006-122G>A | ||
| NR_135779.2:n.735-122G>A |