Linked Data
ClinVar Variation Id:
262549
dbSNP Id:
rs114970273
ExAC:
17:17122536 T / C
gnomAD v2:
17-17122536-T-C
gnomAD v3:
17-17219222-T-C
gnomAD v4:
17-17219222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17219222T>C , CM000679.2:g.17219222T>C | GRCh38 |
| NC_000017.10:g.17122536T>C , CM000679.1:g.17122536T>C | GRCh37 |
| NC_000017.9:g.17063261T>C | NCBI36 |
| NG_008001.2:g.22967A>G , LRG_325:g.22967A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285071.9:c.872-13A>G MANE Select | ENSP00000285071.4:n.872-13A>G | |
| ENST00000285071.8:c.872-13A>G | ENSP00000285071.4:n.872-13A>G | |
| ENST00000427497.3:c.149-168A>G | ENSP00000394249.3:n.149-168A>G | |
| NM_144997.5:c.872-13A>G , LRG_325t1:c.872-13A>G | NP_659434.2:n.872-13A>G | |
| XM_011523714.1:c.926-13A>G | XP_011522016.1:n.926-13A>G | |
| XM_011523715.1:c.926-13A>G | XP_011522017.1:n.926-13A>G | |
| XM_011523716.1:c.926-13A>G | XP_011522018.1:n.926-13A>G | |
| XM_011523717.1:c.926-13A>G | XP_011522019.1:n.926-13A>G | |
| XM_011523718.1:c.926-13A>G | XP_011522020.1:n.926-13A>G | |
| XM_011523719.1:c.926-13A>G | XP_011522021.1:n.926-13A>G | |
| XM_011523720.1:c.650-13A>G | XP_011522022.1:n.650-13A>G | |
| XM_011523721.1:c.926-13A>G | XP_011522023.1:n.926-13A>G | |
| XR_934007.1:n.2266-13A>G | ||
| NM_001353229.1:c.926-13A>G | NP_001340158.1:n.926-13A>G | |
| NM_001353230.1:c.872-13A>G | NP_001340159.1:n.872-13A>G | |
| NM_001353231.1:c.872-13A>G | NP_001340160.1:n.872-13A>G | |
| NM_144997.6:c.872-13A>G | NP_659434.2:n.872-13A>G | |
| XM_011523714.3:c.926-13A>G | XP_011522016.1:n.926-13A>G | |
| XM_011523718.3:c.926-13A>G | XP_011522020.1:n.926-13A>G | |
| XM_011523719.3:c.926-13A>G | XP_011522021.1:n.926-13A>G | |
| XM_011523721.3:c.926-13A>G | XP_011522023.1:n.926-13A>G | |
| XM_017024305.2:c.926-13A>G | XP_016879794.1:n.926-13A>G | |
| XM_017024308.1:c.872-13A>G | XP_016879797.1:n.872-13A>G | |
| XM_017024309.2:c.650-13A>G | XP_016879798.1:n.650-13A>G | |
| XM_024450635.1:c.926-13A>G | XP_024306403.1:n.926-13A>G | |
| XR_001752445.2:n.1430-13A>G | ||
| NM_144997.7:c.872-13A>G MANE Select | NP_659434.2:n.872-13A>G | |
| NM_001353229.2:c.926-13A>G | NP_001340158.1:n.926-13A>G | |
| NM_001353230.2:c.872-13A>G | NP_001340159.1:n.872-13A>G | |
| NM_001353231.2:c.872-13A>G | NP_001340160.1:n.872-13A>G |