Linked Data
dbSNP Id:
rs12108497
gnomAD v2:
4-185571557-C-T
gnomAD v3:
4-184650403-C-T
gnomAD v4:
4-184650403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.184650403C>T , CM000666.2:g.184650403C>T | GRCh38 |
| NC_000004.11:g.185571557C>T , CM000666.1:g.185571557C>T | GRCh37 |
| NC_000004.10:g.185808551C>T | NCBI36 |
| NG_051582.1:g.5791C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314970.11:c.-138+495C>T MANE Select | ENSP00000313816.6:n.-138+495C>T | |
| ENST00000314970.10:c.-138+495C>T | ENSP00000313816.6:n.-138+495C>T | |
| ENST00000503752.5:c.-135+495C>T | ENSP00000420860.1:n.-135+495C>T | |
| ENST00000506278.5:c.-138+495C>T | ENSP00000423409.1:n.-138+495C>T | |
| ENST00000509002.5:c.-138+495C>T | ENSP00000423353.1:n.-138+495C>T | |
| ENST00000509538.5:n.153+495C>T | ||
| ENST00000512834.5:c.-138+495C>T | ENSP00000425316.1:n.-138+495C>T | |
| ENST00000515152.1:c.-135+495C>T | ENSP00000422199.1:n.-135+495C>T | |
| ENST00000515774.5:c.-286+495C>T | ENSP00000421913.1:n.-286+495C>T | |
| NM_001300767.1:c.-286+495C>T | NP_001287696.1:n.-286+495C>T | |
| NM_001300768.1:c.-138+495C>T | NP_001287697.1:n.-138+495C>T | |
| NM_152683.3:c.-138+495C>T | NP_689896.1:n.-138+495C>T | |
| XM_011531719.1:c.-138+495C>T | XP_011530021.1:n.-138+495C>T | |
| XM_011531720.1:c.-135+495C>T | XP_011530022.1:n.-135+495C>T | |
| XM_011531721.1:c.-138+495C>T | XP_011530023.1:n.-138+495C>T | |
| XM_011531722.1:c.-138+495C>T | XP_011530024.1:n.-138+495C>T | |
| XM_011531723.1:c.-286+495C>T | XP_011530025.1:n.-286+495C>T | |
| XM_011531724.1:c.-385+495C>T | XP_011530026.1:n.-385+495C>T | |
| XM_011531725.1:c.-382+495C>T | XP_011530027.1:n.-382+495C>T | |
| XM_011531726.1:c.-146+495C>T | XP_011530028.1:n.-146+495C>T | |
| XM_011531727.1:c.-138+495C>T | XP_011530029.1:n.-138+495C>T | |
| XM_011531728.1:c.-138+495C>T | XP_011530030.1:n.-138+495C>T | |
| XM_011531729.1:c.-704+495C>T | XP_011530031.1:n.-704+495C>T | |
| XM_011531730.1:c.-701+495C>T | XP_011530032.1:n.-701+495C>T | |
| XM_011531731.1:c.-138+495C>T | XP_011530033.1:n.-138+495C>T | |
| XM_011531732.1:c.-138+495C>T | XP_011530034.1:n.-138+495C>T | |
| XR_938701.1:n.173+495C>T | ||
| XR_938702.1:n.173+495C>T | ||
| NM_001345891.1:c.-138+495C>T | NP_001332820.1:n.-138+495C>T | |
| NM_001345892.1:c.-135+495C>T | NP_001332821.1:n.-135+495C>T | |
| NM_001345893.1:c.-138+495C>T | NP_001332822.1:n.-138+495C>T | |
| NM_001345894.1:c.-704+495C>T | NP_001332823.1:n.-704+495C>T | |
| NM_001345895.1:c.-135+495C>T | NP_001332824.1:n.-135+495C>T | |
| NM_001345896.1:c.-135+495C>T | NP_001332825.1:n.-135+495C>T | |
| NM_001345897.1:c.-704+495C>T | NP_001332826.1:n.-704+495C>T | |
| NM_001345898.1:c.-704+495C>T | NP_001332827.1:n.-704+495C>T | |
| NM_001345899.1:c.-138+495C>T | NP_001332828.1:n.-138+495C>T | |
| NM_001345900.1:c.-385+495C>T | NP_001332829.1:n.-385+495C>T | |
| NM_001345901.1:c.-465+495C>T | NP_001332830.1:n.-465+495C>T | |
| NR_144312.1:n.296+495C>T | ||
| NR_144313.1:n.296+495C>T | ||
| NR_144314.1:n.296+495C>T | ||
| XM_011531724.3:c.-385+495C>T | XP_011530026.1:n.-385+495C>T | |
| XM_011531726.3:c.-146+495C>T | XP_011530028.1:n.-146+495C>T | |
| XM_011531730.2:c.-701+495C>T | XP_011530032.1:n.-701+495C>T | |
| XM_017007867.2:c.-138+495C>T | XP_016863356.1:n.-138+495C>T | |
| XM_017007868.2:c.-138+495C>T | XP_016863357.1:n.-138+495C>T | |
| XM_017007869.2:c.-138+495C>T | XP_016863358.1:n.-138+495C>T | |
| XM_017007872.1:c.-465+495C>T | XP_016863361.1:n.-465+495C>T | |
| XM_024453928.1:c.-286+495C>T | XP_024309696.1:n.-286+495C>T | |
| XM_024453929.1:c.-146+495C>T | XP_024309697.1:n.-146+495C>T | |
| XM_024453930.1:c.-146+495C>T | XP_024309698.1:n.-146+495C>T | |
| XM_024453931.1:c.-286+495C>T | XP_024309699.1:n.-286+495C>T | |
| XM_024453932.1:c.-701+495C>T | XP_024309700.1:n.-701+495C>T | |
| XM_024453933.1:c.-465+495C>T | XP_024309701.1:n.-465+495C>T | |
| XM_024453934.1:c.-385+495C>T | XP_024309702.1:n.-385+495C>T | |
| XR_001741160.2:n.184+495C>T | ||
| XR_001741163.2:n.184+495C>T | ||
| XR_002959717.1:n.184+495C>T | ||
| XR_002959718.1:n.184+495C>T | ||
| XR_002959719.1:n.184+495C>T | ||
| XR_938701.3:n.184+495C>T | ||
| NM_152683.4:c.-138+495C>T MANE Select | NP_689896.1:n.-138+495C>T | |
| NM_001300767.2:c.-286+495C>T | NP_001287696.1:n.-286+495C>T | |
| NM_001300768.2:c.-138+495C>T | NP_001287697.1:n.-138+495C>T | |
| NM_001345891.2:c.-138+495C>T | NP_001332820.1:n.-138+495C>T | |
| NM_001345892.2:c.-135+495C>T | NP_001332821.1:n.-135+495C>T | |
| NM_001345893.2:c.-138+495C>T | NP_001332822.1:n.-138+495C>T | |
| NM_001345894.2:c.-704+495C>T | NP_001332823.1:n.-704+495C>T | |
| NM_001345895.2:c.-135+495C>T | NP_001332824.1:n.-135+495C>T | |
| NM_001345896.2:c.-135+495C>T | NP_001332825.1:n.-135+495C>T | |
| NM_001345897.2:c.-704+495C>T | NP_001332826.1:n.-704+495C>T | |
| NM_001345898.2:c.-704+495C>T | NP_001332827.1:n.-704+495C>T | |
| NM_001345899.2:c.-138+495C>T | NP_001332828.1:n.-138+495C>T | |
| NM_001345900.2:c.-385+495C>T | NP_001332829.1:n.-385+495C>T | |
| NM_001345901.2:c.-465+495C>T | NP_001332830.1:n.-465+495C>T | |
| NR_144312.2:n.171+495C>T | ||
| NR_144313.2:n.171+495C>T | ||
| NR_144314.2:n.171+495C>T |