Linked Data
dbSNP Id:
rs952621
gnomAD v2:
3-45476694-G-A
gnomAD v3:
3-45435202-G-A
gnomAD v4:
3-45435202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45435202G>A , CM000665.2:g.45435202G>A | GRCh38 |
| NC_000003.11:g.45476694G>A , CM000665.1:g.45476694G>A | GRCh37 |
| NC_000003.10:g.45451698G>A | NCBI36 |
| NG_033907.1:g.51620G>A | |
| NG_033907.2:g.51620G>A | |
| NG_033907.3:g.51639G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265537.8:c.517-11689G>A | ENSP00000265537.4:n.517-11689G>A | |
| ENST00000642274.1:c.517-11689G>A | ENSP00000495707.1:n.517-11689G>A | |
| ENST00000645846.2:c.517-11689G>A MANE Select | ENSP00000495093.1:n.517-11689G>A | |
| ENST00000650792.2:c.517-11689G>A | ENSP00000498867.1:n.517-11689G>A | |
| ENST00000651549.1:c.517-11689G>A | ENSP00000499002.1:n.517-11689G>A | |
| ENST00000652135.1:c.*385-11689G>A | ENSP00000499104.1:n.*385-11689G>A | |
| ENST00000265537.7:c.517-11689G>A | ENSP00000265537.3:n.517-11689G>A | |
| ENST00000414984.5:c.388-11689G>A | ENSP00000412893.1:n.388-11689G>A | |
| ENST00000415258.5:c.517-11689G>A | ENSP00000408576.1:n.517-11689G>A | |
| ENST00000431023.5:c.388-11689G>A | ENSP00000406611.1:n.388-11689G>A | |
| NM_015340.3:c.517-11689G>A | NP_056155.1:n.517-11689G>A | |
| XM_005265006.1:c.517-11689G>A | XP_005265063.1:n.517-11689G>A | |
| XM_011533554.1:c.517-11689G>A | XP_011531856.1:n.517-11689G>A | |
| XM_005265006.2:c.517-11689G>A | XP_005265063.1:n.517-11689G>A | |
| XM_011533554.2:c.517-11689G>A | XP_011531856.1:n.517-11689G>A | |
| XM_017006042.1:c.517-11689G>A | XP_016861531.1:n.517-11689G>A | |
| NM_015340.4:c.517-11689G>A MANE Select | NP_056155.1:n.517-11689G>A | |
| NM_001368263.1:c.517-11689G>A | NP_001355192.1:n.517-11689G>A |