Linked Data
ClinVar Variation Id:
4449
ClinVar RCV Id:
RCV000004702
dbSNP Id:
rs113994210
gnomAD v4:
17-3659855-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3659855C>G , CM000679.2:g.3659855C>G | GRCh38 |
| NC_000017.10:g.3563149C>G , CM000679.1:g.3563149C>G | GRCh37 |
| NC_000017.9:g.3509898C>G | NCBI36 |
| NG_012489.1:g.28388C>G | |
| NG_012489.2:g.28388C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.853-3C>G MANE Select | ENSP00000046640.4:n.853-3C>G | |
| ENST00000381870.8:c.853-3C>G | ENSP00000371294.3:n.853-3C>G | |
| ENST00000488623.6:c.100-3C>G | ENSP00000501016.1:n.100-3C>G | |
| ENST00000574776.6:c.412-3C>G | ENSP00000461118.2:n.412-3C>G | |
| ENST00000673669.1:c.412-3C>G | ENSP00000501123.1:n.412-3C>G | |
| ENST00000673965.1:c.853-3C>G | ENSP00000500995.1:n.853-3C>G | |
| ENST00000046640.7:c.853-3C>G | ENSP00000046640.3:n.853-3C>G | |
| ENST00000381870.7:c.853-3C>G | ENSP00000371294.3:n.853-3C>G | |
| NM_001031681.2:c.853-3C>G | NP_001026851.2:n.853-3C>G | |
| NM_004937.2:c.853-3C>G | NP_004928.2:n.853-3C>G | |
| XM_005256485.1:c.853-3C>G | XP_005256542.1:n.853-3C>G | |
| XM_006721463.1:c.853-3C>G | XP_006721526.1:n.853-3C>G | |
| XM_006721464.1:c.412-3C>G | XP_006721527.1:n.412-3C>G | |
| XM_011523691.1:c.853-3C>G | XP_011521993.1:n.853-3C>G | |
| XM_011523692.1:c.412-3C>G | XP_011521994.1:n.412-3C>G | |
| XR_934003.1:n.2779-3C>G | ||
| XM_005256485.3:c.853-3C>G | XP_005256542.1:n.853-3C>G | |
| XM_006721463.3:c.853-3C>G | XP_006721526.1:n.853-3C>G | |
| XM_006721464.2:c.412-3C>G | XP_006721527.1:n.412-3C>G | |
| XM_011523691.2:c.853-3C>G | XP_011521993.1:n.853-3C>G | |
| XM_011523692.2:c.412-3C>G | XP_011521994.1:n.412-3C>G | |
| XM_017024254.1:c.412-3C>G | XP_016879743.1:n.412-3C>G | |
| XM_017024255.1:c.412-3C>G | XP_016879744.1:n.412-3C>G | |
| XM_017024256.1:c.412-3C>G | XP_016879745.1:n.412-3C>G | |
| XM_017024257.1:c.412-3C>G | XP_016879746.1:n.412-3C>G | |
| XM_017024258.1:c.412-3C>G | XP_016879747.1:n.412-3C>G | |
| NM_001374492.1:c.853-3C>G | NP_001361421.1:n.853-3C>G | |
| NM_001374493.1:c.412-3C>G | NP_001361422.1:n.412-3C>G | |
| NM_001374494.1:c.412-3C>G | NP_001361423.1:n.412-3C>G | |
| NM_001374495.1:c.412-3C>G | NP_001361424.1:n.412-3C>G | |
| NM_001374496.1:c.412-3C>G | NP_001361425.1:n.412-3C>G | |
| NM_004937.3:c.853-3C>G MANE Select | NP_004928.2:n.853-3C>G | |
| NM_001031681.3:c.853-3C>G | NP_001026851.2:n.853-3C>G |