Linked Data
ClinVar Variation Id:
526030
dbSNP Id:
rs375952052
ExAC:
17:3563518 G / A
gnomAD v2:
17-3563518-G-A
gnomAD v3:
17-3660224-G-A
gnomAD v4:
17-3660224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3660224G>A , CM000679.2:g.3660224G>A | GRCh38 |
| NC_000017.10:g.3563518G>A , CM000679.1:g.3563518G>A | GRCh37 |
| NC_000017.9:g.3510267G>A | NCBI36 |
| NG_012489.1:g.28757G>A | |
| NG_012489.2:g.28757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.971-12G>A MANE Select | ENSP00000046640.4:n.971-12G>A | |
| ENST00000381870.8:c.971-12G>A | ENSP00000371294.3:n.971-12G>A | |
| ENST00000488623.6:c.218-12G>A | ENSP00000501016.1:n.218-12G>A | |
| ENST00000574776.6:c.530-12G>A | ENSP00000461118.2:n.530-12G>A | |
| ENST00000673669.1:c.530-12G>A | ENSP00000501123.1:n.530-12G>A | |
| ENST00000673965.1:c.971-12G>A | ENSP00000500995.1:n.971-12G>A | |
| ENST00000046640.7:c.971-12G>A | ENSP00000046640.3:n.971-12G>A | |
| ENST00000381870.7:c.971-12G>A | ENSP00000371294.3:n.971-12G>A | |
| NM_001031681.2:c.971-12G>A | NP_001026851.2:n.971-12G>A | |
| NM_004937.2:c.971-12G>A | NP_004928.2:n.971-12G>A | |
| XM_005256485.1:c.971-12G>A | XP_005256542.1:n.971-12G>A | |
| XM_006721463.1:c.971-12G>A | XP_006721526.1:n.971-12G>A | |
| XM_006721464.1:c.530-12G>A | XP_006721527.1:n.530-12G>A | |
| XM_011523691.1:c.971-12G>A | XP_011521993.1:n.971-12G>A | |
| XM_011523692.1:c.530-12G>A | XP_011521994.1:n.530-12G>A | |
| XM_005256485.3:c.971-12G>A | XP_005256542.1:n.971-12G>A | |
| XM_006721463.3:c.971-12G>A | XP_006721526.1:n.971-12G>A | |
| XM_006721464.2:c.530-12G>A | XP_006721527.1:n.530-12G>A | |
| XM_011523691.2:c.971-12G>A | XP_011521993.1:n.971-12G>A | |
| XM_011523692.2:c.530-12G>A | XP_011521994.1:n.530-12G>A | |
| XM_017024254.1:c.530-12G>A | XP_016879743.1:n.530-12G>A | |
| XM_017024255.1:c.530-12G>A | XP_016879744.1:n.530-12G>A | |
| XM_017024256.1:c.530-12G>A | XP_016879745.1:n.530-12G>A | |
| XM_017024257.1:c.530-12G>A | XP_016879746.1:n.530-12G>A | |
| XM_017024258.1:c.530-12G>A | XP_016879747.1:n.530-12G>A | |
| NM_001374492.1:c.971-12G>A | NP_001361421.1:n.971-12G>A | |
| NM_001374493.1:c.530-12G>A | NP_001361422.1:n.530-12G>A | |
| NM_001374494.1:c.530-12G>A | NP_001361423.1:n.530-12G>A | |
| NM_001374495.1:c.530-12G>A | NP_001361424.1:n.530-12G>A | |
| NM_001374496.1:c.530-12G>A | NP_001361425.1:n.530-12G>A | |
| NM_004937.3:c.971-12G>A MANE Select | NP_004928.2:n.971-12G>A | |
| NM_001031681.3:c.971-12G>A | NP_001026851.2:n.971-12G>A |