Linked Data
dbSNP Id:
rs2156921
gnomAD v2:
22-23569063-G-A
gnomAD v3:
22-23226876-G-A
gnomAD v4:
22-23226876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23226876G>A , CM000684.2:g.23226876G>A | GRCh38 |
| NC_000022.10:g.23569063G>A , CM000684.1:g.23569063G>A | GRCh37 |
| NC_000022.9:g.21899063G>A | NCBI36 |
| NG_009244.1:g.51512G>A | |
| NG_009244.2:g.51512G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305877.13:c.1280-26923G>A MANE Select | ENSP00000303507.8:n.1280-26923G>A | |
| ENST00000305877.12:c.1280-26923G>A | ENSP00000303507.8:n.1280-26923G>A | |
| ENST00000359540.7:c.1280-26923G>A | ENSP00000352535.3:n.1280-26923G>A | |
| ENST00000398512.9:c.1269+44647G>A | ENSP00000381524.6:n.1269+44647G>A | |
| ENST00000463770.5:n.134-26923G>A | ||
| ENST00000479188.5:n.130-15942G>A | ||
| ENST00000487679.1:n.197-26923G>A | ||
| NM_004327.3:c.1280-26923G>A | NP_004318.3:n.1280-26923G>A | |
| NM_021574.2:c.1280-26923G>A | NP_067585.2:n.1280-26923G>A | |
| NM_004327.4:c.1280-26923G>A MANE Select | NP_004318.3:n.1280-26923G>A | |
| NM_021574.3:c.1280-26923G>A | NP_067585.2:n.1280-26923G>A |