Linked Data
dbSNP Id:
rs972328059
gnomAD v2:
9-4507282-G-A
gnomAD v3:
9-4507282-G-A
gnomAD v4:
9-4507282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4507282G>A , CM000671.2:g.4507282G>A | GRCh38 |
| NC_000009.11:g.4507282G>A , CM000671.1:g.4507282G>A | GRCh37 |
| NC_000009.10:g.4497282G>A | NCBI36 |
| NG_017044.1:g.21856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.91+16512G>A MANE Select | ENSP00000262352.3:n.91+16512G>A | |
| ENST00000262352.7:c.91+16512G>A | ENSP00000262352.3:n.91+16512G>A | |
| NM_004170.5:c.91+16512G>A | NP_004161.4:n.91+16512G>A | |
| XM_011518007.1:c.92-12546G>A | XP_011516309.1:n.92-12546G>A | |
| XM_011518010.1:c.91+16512G>A | XP_011516312.1:n.91+16512G>A | |
| XM_017015042.1:c.92-12546G>A | XP_016870531.1:n.92-12546G>A | |
| XM_017015043.1:c.91+16512G>A | XP_016870532.1:n.91+16512G>A | |
| NM_004170.6:c.91+16512G>A MANE Select | NP_004161.4:n.91+16512G>A |