Linked Data
ClinVar Variation Id:
1460064
ClinVar RCV Id:
RCV001951405
dbSNP Id:
rs2142988018
gnomAD v4:
17-7224394-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224394G>T , CM000679.2:g.7224394G>T | GRCh38 |
| NC_000017.10:g.7127713G>T , CM000679.1:g.7127713G>T | GRCh37 |
| NC_000017.9:g.7068437G>T | NCBI36 |
| NG_007975.1:g.9561G>T | |
| NG_008391.2:g.657C>A | |
| NG_033038.1:g.15151C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1605+1G>T MANE Select | ENSP00000349297.5:n.1605+1G>T | |
| ENST00000322910.9:c.*1560+1G>T | ENSP00000325395.5:n.*1560+1G>T | |
| ENST00000350303.9:c.1539+1G>T | ENSP00000344152.5:n.1539+1G>T | |
| ENST00000356839.9:c.1605+1G>T | ENSP00000349297.5:n.1605+1G>T | |
| ENST00000542255.6:c.463+1G>T | ||
| ENST00000543245.6:c.1674+1G>T | ENSP00000438689.2:n.1674+1G>T | |
| ENST00000578319.5:n.101G>T | ||
| ENST00000578711.1:n.890G>T | ||
| ENST00000578809.5:n.177+1G>T | ||
| ENST00000579391.1:n.213+1G>T | ||
| ENST00000579425.5:n.721+1G>T | ||
| ENST00000579546.1:c.344+1G>T | ||
| ENST00000579894.5:n.392+1G>T | ||
| ENST00000582450.1:n.113+1G>T | ||
| ENST00000583074.5:n.226+1G>T | ||
| ENST00000583850.5:n.380+1G>T | ||
| ENST00000583858.5:c.536+1G>T | ||
| ENST00000585203.6:n.796+1G>T | ||
| NM_000018.3:c.1605+1G>T | NP_000009.1:n.1605+1G>T | |
| NM_001033859.2:c.1539+1G>T | NP_001029031.1:n.1539+1G>T | |
| NM_001270447.1:c.1674+1G>T | NP_001257376.1:n.1674+1G>T | |
| NM_001270448.1:c.1377+1G>T | NP_001257377.1:n.1377+1G>T | |
| XM_006721516.2:c.1605+1G>T | XP_006721579.2:n.1605+1G>T | |
| XM_011523829.1:c.1507+1G>T | XP_011522131.1:n.1507+1G>T | |
| XM_011523830.1:c.1507+1G>T | XP_011522132.1:n.1507+1G>T | |
| XR_934021.1:n.1712+1G>T | ||
| XR_934022.1:n.1614+1G>T | ||
| XR_934023.1:n.1614+1G>T | ||
| XM_006721516.3:c.1605+1G>T | XP_006721579.2:n.1605+1G>T | |
| XM_011523829.2:c.1507+1G>T | XP_011522131.1:n.1507+1G>T | |
| XM_011523830.2:c.1507+1G>T | XP_011522132.1:n.1507+1G>T | |
| XM_024450741.1:c.1508G>T | XP_024306509.1:p.Gly503Val | |
| XR_934021.2:n.1664+1G>T | ||
| XR_934022.2:n.1566+1G>T | ||
| XR_934023.2:n.1566+1G>T | ||
| NM_000018.4:c.1605+1G>T MANE Select | NP_000009.1:n.1605+1G>T | |
| NM_001033859.3:c.1539+1G>T | NP_001029031.1:n.1539+1G>T | |
| NM_001270447.2:c.1674+1G>T | NP_001257376.1:n.1674+1G>T | |
| NM_001270448.2:c.1377+1G>T | NP_001257377.1:n.1377+1G>T |