Linked Data
dbSNP Id:
rs9303542
gnomAD v2:
17-46411500-A-G
gnomAD v3:
17-48334138-A-G
gnomAD v4:
17-48334138-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48334138A>G , CM000679.2:g.48334138A>G | GRCh38 |
| NC_000017.10:g.46411500A>G , CM000679.1:g.46411500A>G | GRCh37 |
| NC_000017.9:g.43766499A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336915.11:c.280+11767T>C MANE Select | ENSP00000338171.6:n.280+11767T>C | |
| ENST00000336915.10:c.280+11767T>C | ENSP00000338171.6:n.280+11767T>C | |
| ENST00000581400.2:c.101+11767T>C | ||
| ENST00000581419.1:c.61+11767T>C | ENSP00000462437.1:n.61+11767T>C | |
| ENST00000584709.5:c.280+11767T>C | ENSP00000463284.1:n.280+11767T>C | |
| ENST00000584924.5:c.280+11767T>C | ENSP00000464311.1:n.280+11767T>C | |
| NM_001075099.1:c.280+11767T>C | NP_001068567.1:n.280+11767T>C | |
| NM_003726.3:c.280+11767T>C | NP_003717.3:n.280+11767T>C | |
| XM_005257755.2:c.280+11767T>C | XP_005257812.1:n.280+11767T>C | |
| XM_011525408.1:c.280+11767T>C | XP_011523710.1:n.280+11767T>C | |
| XM_011525409.1:c.280+11767T>C | XP_011523711.1:n.280+11767T>C | |
| XM_011525410.1:c.232+11767T>C | XP_011523712.1:n.232+11767T>C | |
| XM_011525411.1:c.280+11767T>C | XP_011523713.1:n.280+11767T>C | |
| XM_011525412.1:c.208+11767T>C | XP_011523714.1:n.208+11767T>C | |
| XM_011525414.1:c.-122+11767T>C | XP_011523716.1:n.-122+11767T>C | |
| XM_011525415.1:c.-3+10119T>C | XP_011523717.1:n.-3+10119T>C | |
| XM_005257755.4:c.280+11767T>C | XP_005257812.1:n.280+11767T>C | |
| XM_017025257.2:c.208+11767T>C | XP_016880746.1:n.208+11767T>C | |
| XM_017025259.1:c.-122+11767T>C | XP_016880748.1:n.-122+11767T>C | |
| XM_024451012.1:c.223+11767T>C | XP_024306780.1:n.223+11767T>C | |
| NM_003726.4:c.280+11767T>C MANE Select | NP_003717.3:n.280+11767T>C | |
| NM_001075099.2:c.280+11767T>C | NP_001068567.1:n.280+11767T>C |