Linked Data
ClinVar Variation Id:
92277
dbSNP Id:
rs17671352
ExAC:
17:7127718 T / C
gnomAD v2:
17-7127718-T-C
gnomAD v3:
17-7224399-T-C
gnomAD v4:
17-7224399-T-C
ERepo:
CA274404/MONDO:0008723/021
PubMed:
PMID:19208414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224399T>C , CM000679.2:g.7224399T>C | GRCh38 |
| NC_000017.10:g.7127718T>C , CM000679.1:g.7127718T>C | GRCh37 |
| NC_000017.9:g.7068442T>C | NCBI36 |
| NG_007975.1:g.9566T>C | |
| NG_008391.2:g.652A>G | |
| NG_033038.1:g.15146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1605+6T>C MANE Select | ENSP00000349297.5:n.1605+6T>C | |
| ENST00000322910.9:c.*1560+6T>C | ENSP00000325395.5:n.*1560+6T>C | |
| ENST00000350303.9:c.1539+6T>C | ENSP00000344152.5:n.1539+6T>C | |
| ENST00000356839.9:c.1605+6T>C | ENSP00000349297.5:n.1605+6T>C | |
| ENST00000542255.6:c.463+6T>C | ||
| ENST00000543245.6:c.1674+6T>C | ENSP00000438689.2:n.1674+6T>C | |
| ENST00000578319.5:n.106T>C | ||
| ENST00000578711.1:n.895T>C | ||
| ENST00000578809.5:n.177+6T>C | ||
| ENST00000579391.1:n.213+6T>C | ||
| ENST00000579425.5:n.721+6T>C | ||
| ENST00000579546.1:c.344+6T>C | ||
| ENST00000579894.5:n.392+6T>C | ||
| ENST00000582450.1:n.113+6T>C | ||
| ENST00000583074.5:n.226+6T>C | ||
| ENST00000583850.5:n.380+6T>C | ||
| ENST00000583858.5:c.536+6T>C | ||
| ENST00000585203.6:n.796+6T>C | ||
| NM_000018.3:c.1605+6T>C | NP_000009.1:n.1605+6T>C | |
| NM_001033859.2:c.1539+6T>C | NP_001029031.1:n.1539+6T>C | |
| NM_001270447.1:c.1674+6T>C | NP_001257376.1:n.1674+6T>C | |
| NM_001270448.1:c.1377+6T>C | NP_001257377.1:n.1377+6T>C | |
| XM_006721516.2:c.1605+6T>C | XP_006721579.2:n.1605+6T>C | |
| XM_011523829.1:c.1507+6T>C | XP_011522131.1:n.1507+6T>C | |
| XM_011523830.1:c.1507+6T>C | XP_011522132.1:n.1507+6T>C | |
| XR_934021.1:n.1712+6T>C | ||
| XR_934022.1:n.1614+6T>C | ||
| XR_934023.1:n.1614+6T>C | ||
| XM_006721516.3:c.1605+6T>C | XP_006721579.2:n.1605+6T>C | |
| XM_011523829.2:c.1507+6T>C | XP_011522131.1:n.1507+6T>C | |
| XM_011523830.2:c.1507+6T>C | XP_011522132.1:n.1507+6T>C | |
| XM_024450741.1:c.1513T>C | XP_024306509.1:p.Trp505Arg | |
| XR_934021.2:n.1664+6T>C | ||
| XR_934022.2:n.1566+6T>C | ||
| XR_934023.2:n.1566+6T>C | ||
| NM_000018.4:c.1605+6T>C MANE Select | NP_000009.1:n.1605+6T>C | |
| NM_001033859.3:c.1539+6T>C | NP_001029031.1:n.1539+6T>C | |
| NM_001270447.2:c.1674+6T>C | NP_001257376.1:n.1674+6T>C | |
| NM_001270448.2:c.1377+6T>C | NP_001257377.1:n.1377+6T>C |