Linked Data
ClinVar Variation Id:
781965
ClinVar RCV Id:
RCV000963283
dbSNP Id:
rs199909771
ExAC:
11:76234192 T / C
gnomAD v2:
11-76234192-T-C
gnomAD v3:
11-76523148-T-C
gnomAD v4:
11-76523148-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.76523148T>C , CM000673.2:g.76523148T>C | GRCh38 |
| NC_000011.9:g.76234192T>C , CM000673.1:g.76234192T>C | GRCh37 |
| NC_000011.8:g.75911840T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695367.1:c.1730-7T>C MANE Select | ENSP00000511840.1:n.1730-7T>C | |
| ENST00000334736.7:c.1685-7T>C | ENSP00000334130.3:n.1685-7T>C | |
| ENST00000524490.5:c.1433-7T>C | ENSP00000431166.1:n.1433-7T>C | |
| ENST00000524767.5:c.1730-7T>C | ENSP00000433205.1:n.1730-7T>C | |
| ENST00000525038.5:c.1730-7T>C | ENSP00000436968.1:n.1730-7T>C | |
| ENST00000525919.5:c.1688-7T>C | ENSP00000432010.1:n.1688-7T>C | |
| ENST00000529032.5:c.1685-7T>C | ENSP00000432327.1:n.1685-7T>C | |
| ENST00000533248.5:c.1727-7T>C | ENSP00000433634.1:n.1727-7T>C | |
| NM_001300942.1:c.1730-7T>C | NP_001287871.1:n.1730-7T>C | |
| NM_001300943.1:c.1688-7T>C | NP_001287872.1:n.1688-7T>C | |
| NM_001300944.1:c.1730-7T>C | NP_001287873.1:n.1730-7T>C | |
| NM_020193.4:c.1685-7T>C | NP_064578.2:n.1685-7T>C | |
| XM_005274112.3:c.1577-7T>C | XP_005274169.1:n.1577-7T>C | |
| XM_006718637.2:c.1730-7T>C | XP_006718700.1:n.1730-7T>C | |
| XM_006718638.2:c.1688-7T>C | XP_006718701.1:n.1688-7T>C | |
| XM_006718639.2:c.1535-7T>C | XP_006718702.1:n.1535-7T>C | |
| XM_011545173.1:c.1730-7T>C | XP_011543475.1:n.1730-7T>C | |
| XM_011545174.1:c.1727-7T>C | XP_011543476.1:n.1727-7T>C | |
| XM_011545175.1:c.1688-7T>C | XP_011543477.1:n.1688-7T>C | |
| XM_011545176.1:c.1730-7T>C | XP_011543478.1:n.1730-7T>C | |
| XM_011545177.1:c.1577-7T>C | XP_011543479.1:n.1577-7T>C | |
| XM_011545178.1:c.1730-7T>C | XP_011543480.1:n.1730-7T>C | |
| XM_011545179.1:c.1535-7T>C | XP_011543481.1:n.1535-7T>C | |
| XM_011545180.1:c.1730-7T>C | XP_011543482.1:n.1730-7T>C | |
| XR_949996.1:n.1970-7T>C | ||
| XR_949997.1:n.1970-7T>C | ||
| XM_005274112.5:c.1577-7T>C | XP_005274169.1:n.1577-7T>C | |
| XM_006718637.4:c.1730-7T>C | XP_006718700.1:n.1730-7T>C | |
| XM_006718638.4:c.1688-7T>C | XP_006718701.1:n.1688-7T>C | |
| XM_006718639.4:c.1535-7T>C | XP_006718702.1:n.1535-7T>C | |
| XM_011545173.3:c.1730-7T>C | XP_011543475.1:n.1730-7T>C | |
| XM_011545174.3:c.1727-7T>C | XP_011543476.1:n.1727-7T>C | |
| XM_011545175.3:c.1688-7T>C | XP_011543477.1:n.1688-7T>C | |
| XM_011545177.3:c.1577-7T>C | XP_011543479.1:n.1577-7T>C | |
| XM_011545178.3:c.1730-7T>C | XP_011543480.1:n.1730-7T>C | |
| XM_011545179.3:c.1535-7T>C | XP_011543481.1:n.1535-7T>C | |
| XM_017018021.2:c.1730-7T>C | XP_016873510.1:n.1730-7T>C | |
| XM_017018022.2:c.596-7T>C | XP_016873511.1:n.596-7T>C | |
| XR_949996.3:n.1970-7T>C | ||
| XR_949997.3:n.1970-7T>C | ||
| NM_001300942.2:c.1730-7T>C MANE Select | NP_001287871.1:n.1730-7T>C | |
| NM_001300943.2:c.1688-7T>C | NP_001287872.1:n.1688-7T>C | |
| NM_001300944.2:c.1730-7T>C | NP_001287873.1:n.1730-7T>C | |
| NM_020193.5:c.1685-7T>C | NP_064578.2:n.1685-7T>C |