Linked Data
ClinVar Variation Id:
656452
ClinVar RCV Id:
RCV000812878
dbSNP Id:
rs1597537351
gnomAD v4:
17-7224395-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224395T>C , CM000679.2:g.7224395T>C | GRCh38 |
| NC_000017.10:g.7127714T>C , CM000679.1:g.7127714T>C | GRCh37 |
| NC_000017.9:g.7068438T>C | NCBI36 |
| NG_007975.1:g.9562T>C | |
| NG_008391.2:g.656A>G | |
| NG_033038.1:g.15150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1605+2T>C MANE Select | ENSP00000349297.5:n.1605+2T>C | |
| ENST00000322910.9:c.*1560+2T>C | ENSP00000325395.5:n.*1560+2T>C | |
| ENST00000350303.9:c.1539+2T>C | ENSP00000344152.5:n.1539+2T>C | |
| ENST00000356839.9:c.1605+2T>C | ENSP00000349297.5:n.1605+2T>C | |
| ENST00000542255.6:c.463+2T>C | ||
| ENST00000543245.6:c.1674+2T>C | ENSP00000438689.2:n.1674+2T>C | |
| ENST00000578319.5:n.102T>C | ||
| ENST00000578711.1:n.891T>C | ||
| ENST00000578809.5:n.177+2T>C | ||
| ENST00000579391.1:n.213+2T>C | ||
| ENST00000579425.5:n.721+2T>C | ||
| ENST00000579546.1:c.344+2T>C | ||
| ENST00000579894.5:n.392+2T>C | ||
| ENST00000582450.1:n.113+2T>C | ||
| ENST00000583074.5:n.226+2T>C | ||
| ENST00000583850.5:n.380+2T>C | ||
| ENST00000583858.5:c.536+2T>C | ||
| ENST00000585203.6:n.796+2T>C | ||
| NM_000018.3:c.1605+2T>C | NP_000009.1:n.1605+2T>C | |
| NM_001033859.2:c.1539+2T>C | NP_001029031.1:n.1539+2T>C | |
| NM_001270447.1:c.1674+2T>C | NP_001257376.1:n.1674+2T>C | |
| NM_001270448.1:c.1377+2T>C | NP_001257377.1:n.1377+2T>C | |
| XM_006721516.2:c.1605+2T>C | XP_006721579.2:n.1605+2T>C | |
| XM_011523829.1:c.1507+2T>C | XP_011522131.1:n.1507+2T>C | |
| XM_011523830.1:c.1507+2T>C | XP_011522132.1:n.1507+2T>C | |
| XR_934021.1:n.1712+2T>C | ||
| XR_934022.1:n.1614+2T>C | ||
| XR_934023.1:n.1614+2T>C | ||
| XM_006721516.3:c.1605+2T>C | XP_006721579.2:n.1605+2T>C | |
| XM_011523829.2:c.1507+2T>C | XP_011522131.1:n.1507+2T>C | |
| XM_011523830.2:c.1507+2T>C | XP_011522132.1:n.1507+2T>C | |
| XM_024450741.1:c.1509T>C | XP_024306509.1:p.Gly503= | |
| XR_934021.2:n.1664+2T>C | ||
| XR_934022.2:n.1566+2T>C | ||
| XR_934023.2:n.1566+2T>C | ||
| NM_000018.4:c.1605+2T>C MANE Select | NP_000009.1:n.1605+2T>C | |
| NM_001033859.3:c.1539+2T>C | NP_001029031.1:n.1539+2T>C | |
| NM_001270447.2:c.1674+2T>C | NP_001257376.1:n.1674+2T>C | |
| NM_001270448.2:c.1377+2T>C | NP_001257377.1:n.1377+2T>C |