Linked Data
ClinVar Variation Id:
322069
dbSNP Id:
rs748857550
ExAC:
17:17129643 A / G
gnomAD v2:
17-17129643-A-G
gnomAD v4:
17-17226329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17226329A>G , CM000679.2:g.17226329A>G | GRCh38 |
| NC_000017.10:g.17129643A>G , CM000679.1:g.17129643A>G | GRCh37 |
| NC_000017.9:g.17070368A>G | NCBI36 |
| NG_008001.2:g.15860T>C , LRG_325:g.15860T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.250-7T>C MANE Select | ENSP00000285071.4:n.250-7T>C | |
| ENST00000285071.8:c.250-7T>C | ENSP00000285071.4:n.250-7T>C | |
| ENST00000389168.6:n.1590-7T>C | ||
| ENST00000389169.9:c.250-7T>C | ENSP00000373821.5:n.250-7T>C | |
| ENST00000389171.4:n.754-7T>C | ||
| ENST00000417064.1:c.91-7T>C | ENSP00000410410.1:n.91-7T>C | |
| ENST00000427497.3:c.148+1661T>C | ENSP00000394249.3:n.148+1661T>C | |
| NM_144606.5:c.250-7T>C | NP_653207.1:n.250-7T>C | |
| NM_144997.5:c.250-7T>C , LRG_325t1:c.250-7T>C | NP_659434.2:n.250-7T>C | |
| XM_011523714.1:c.250-7T>C | XP_011522016.1:n.250-7T>C | |
| XM_011523715.1:c.250-7T>C | XP_011522017.1:n.250-7T>C | |
| XM_011523716.1:c.250-7T>C | XP_011522018.1:n.250-7T>C | |
| XM_011523717.1:c.250-7T>C | XP_011522019.1:n.250-7T>C | |
| XM_011523718.1:c.250-7T>C | XP_011522020.1:n.250-7T>C | |
| XM_011523719.1:c.250-7T>C | XP_011522021.1:n.250-7T>C | |
| XM_011523720.1:c.250-7T>C | XP_011522022.1:n.250-7T>C | |
| XM_011523721.1:c.250-7T>C | XP_011522023.1:n.250-7T>C | |
| XR_934007.1:n.1590-7T>C | ||
| NM_001353229.1:c.250-7T>C | NP_001340158.1:n.250-7T>C | |
| NM_001353230.1:c.250-7T>C | NP_001340159.1:n.250-7T>C | |
| NM_001353231.1:c.250-7T>C | NP_001340160.1:n.250-7T>C | |
| NM_144606.6:c.250-7T>C | NP_653207.1:n.250-7T>C | |
| NM_144997.6:c.250-7T>C | NP_659434.2:n.250-7T>C | |
| XM_011523714.3:c.250-7T>C | XP_011522016.1:n.250-7T>C | |
| XM_011523718.3:c.250-7T>C | XP_011522020.1:n.250-7T>C | |
| XM_011523719.3:c.250-7T>C | XP_011522021.1:n.250-7T>C | |
| XM_011523721.3:c.250-7T>C | XP_011522023.1:n.250-7T>C | |
| XM_017024305.2:c.250-7T>C | XP_016879794.1:n.250-7T>C | |
| XM_017024308.1:c.250-7T>C | XP_016879797.1:n.250-7T>C | |
| XM_017024309.2:c.250-7T>C | XP_016879798.1:n.250-7T>C | |
| XM_024450635.1:c.250-7T>C | XP_024306403.1:n.250-7T>C | |
| XR_001752445.2:n.754-7T>C | ||
| NM_144997.7:c.250-7T>C MANE Select | NP_659434.2:n.250-7T>C | |
| NM_001353229.2:c.250-7T>C | NP_001340158.1:n.250-7T>C | |
| NM_001353230.2:c.250-7T>C | NP_001340159.1:n.250-7T>C | |
| NM_001353231.2:c.250-7T>C | NP_001340160.1:n.250-7T>C | |
| NM_144606.7:c.250-7T>C | NP_653207.1:n.250-7T>C |