Linked Data
ClinVar Variation Id:
726525
ClinVar RCV Id:
RCV000900754
dbSNP Id:
rs529427104
ExAC:
11:76162895 C / T
gnomAD v2:
11-76162895-C-T
gnomAD v3:
11-76451851-C-T
gnomAD v4:
11-76451851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.76451851C>T , CM000673.2:g.76451851C>T | GRCh38 |
| NC_000011.9:g.76162895C>T , CM000673.1:g.76162895C>T | GRCh37 |
| NC_000011.8:g.75840543C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695367.1:c.71-7C>T MANE Select | ENSP00000511840.1:n.71-7C>T | |
| ENST00000334736.7:c.71-7C>T | ENSP00000334130.3:n.71-7C>T | |
| ENST00000427574.6:n.316-7C>T | ||
| ENST00000524490.5:c.71-7C>T | ENSP00000431166.1:n.71-7C>T | |
| ENST00000524767.5:c.71-7C>T | ENSP00000433205.1:n.71-7C>T | |
| ENST00000525038.5:c.71-7C>T | ENSP00000436968.1:n.71-7C>T | |
| ENST00000525919.5:c.71-7C>T | ENSP00000432010.1:n.71-7C>T | |
| ENST00000525959.5:n.197-7C>T | ||
| ENST00000528826.1:n.192-7C>T | ||
| ENST00000529032.5:c.71-7C>T | ENSP00000432327.1:n.71-7C>T | |
| ENST00000533248.5:c.71-7C>T | ENSP00000433634.1:n.71-7C>T | |
| ENST00000533972.5:c.70+4843C>T | ENSP00000434566.1:n.70+4843C>T | |
| ENST00000533988.5:c.71-7C>T | ENSP00000434665.1:n.71-7C>T | |
| NM_001300942.1:c.71-7C>T | NP_001287871.1:n.71-7C>T | |
| NM_001300943.1:c.71-7C>T | NP_001287872.1:n.71-7C>T | |
| NM_001300944.1:c.71-7C>T | NP_001287873.1:n.71-7C>T | |
| NM_020193.4:c.71-7C>T | NP_064578.2:n.71-7C>T | |
| XM_005274112.3:c.71-7C>T | XP_005274169.1:n.71-7C>T | |
| XM_006718637.2:c.71-7C>T | XP_006718700.1:n.71-7C>T | |
| XM_006718638.2:c.71-7C>T | XP_006718701.1:n.71-7C>T | |
| XM_006718639.2:c.71-7C>T | XP_006718702.1:n.71-7C>T | |
| XM_011545173.1:c.71-7C>T | XP_011543475.1:n.71-7C>T | |
| XM_011545174.1:c.71-7C>T | XP_011543476.1:n.71-7C>T | |
| XM_011545175.1:c.71-7C>T | XP_011543477.1:n.71-7C>T | |
| XM_011545176.1:c.71-7C>T | XP_011543478.1:n.71-7C>T | |
| XM_011545177.1:c.71-7C>T | XP_011543479.1:n.71-7C>T | |
| XM_011545178.1:c.71-7C>T | XP_011543480.1:n.71-7C>T | |
| XM_011545179.1:c.71-7C>T | XP_011543481.1:n.71-7C>T | |
| XM_011545180.1:c.71-7C>T | XP_011543482.1:n.71-7C>T | |
| XR_949996.1:n.311-7C>T | ||
| XR_949997.1:n.311-7C>T | ||
| XM_005274112.5:c.71-7C>T | XP_005274169.1:n.71-7C>T | |
| XM_006718637.4:c.71-7C>T | XP_006718700.1:n.71-7C>T | |
| XM_006718638.4:c.71-7C>T | XP_006718701.1:n.71-7C>T | |
| XM_006718639.4:c.71-7C>T | XP_006718702.1:n.71-7C>T | |
| XM_011545173.3:c.71-7C>T | XP_011543475.1:n.71-7C>T | |
| XM_011545174.3:c.71-7C>T | XP_011543476.1:n.71-7C>T | |
| XM_011545175.3:c.71-7C>T | XP_011543477.1:n.71-7C>T | |
| XM_011545177.3:c.71-7C>T | XP_011543479.1:n.71-7C>T | |
| XM_011545178.3:c.71-7C>T | XP_011543480.1:n.71-7C>T | |
| XM_011545179.3:c.71-7C>T | XP_011543481.1:n.71-7C>T | |
| XM_017018021.2:c.71-7C>T | XP_016873510.1:n.71-7C>T | |
| XM_017018022.2:c.-1110-7C>T | XP_016873511.1:n.-1110-7C>T | |
| XR_949996.3:n.311-7C>T | ||
| XR_949997.3:n.311-7C>T | ||
| NM_001300942.2:c.71-7C>T MANE Select | NP_001287871.1:n.71-7C>T | |
| NM_001300943.2:c.71-7C>T | NP_001287872.1:n.71-7C>T | |
| NM_001300944.2:c.71-7C>T | NP_001287873.1:n.71-7C>T | |
| NM_020193.5:c.71-7C>T | NP_064578.2:n.71-7C>T |