gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169426135A>G , CM000666.2:g.169426135A>G | GRCh38 |
| NC_000004.11:g.170347286A>G , CM000666.1:g.170347286A>G | GRCh37 |
| NC_000004.10:g.170583861A>G | NCBI36 |
| NG_027982.1:g.191493T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2806+11T>C | ENSP00000508844.1:n.2806+11T>C | |
| ENST00000685677.1:n.2272+11T>C | ||
| ENST00000686697.1:c.2491+11T>C | ENSP00000508689.1:n.2491+11T>C | |
| ENST00000687054.1:n.3468+11T>C | ||
| ENST00000687528.1:c.*1709+11T>C | ENSP00000510228.1:n.*1709+11T>C | |
| ENST00000687643.1:c.2917+11T>C | ENSP00000509309.1:n.2917+11T>C | |
| ENST00000688934.1:c.997+11T>C | ENSP00000510760.1:n.997+11T>C | |
| ENST00000690540.1:n.2424+11T>C | ||
| ENST00000507142.6:c.2974+11T>C MANE Select | ENSP00000424757.2:n.2974+11T>C | |
| ENST00000638824.1:n.1102+11T>C | ||
| ENST00000439128.6:c.2890+11T>C | ENSP00000408020.2:n.2890+11T>C | |
| ENST00000507142.5:c.2974+11T>C | ENSP00000424757.1:n.2974+11T>C | |
| ENST00000510533.5:c.2758+11T>C | ENSP00000427653.1:n.2758+11T>C | |
| ENST00000511633.5:c.2842+11T>C | ENSP00000423332.1:n.2842+11T>C | |
| ENST00000512193.5:c.2683+11T>C | ENSP00000424938.1:n.2683+11T>C | |
| NM_001199397.1:c.2974+11T>C | NP_001186326.1:n.2974+11T>C | |
| NM_001199398.1:c.2842+11T>C | NP_001186327.1:n.2842+11T>C | |
| NM_001199399.1:c.2683+11T>C | NP_001186328.1:n.2683+11T>C | |
| NM_001199400.1:c.2758+11T>C | NP_001186329.1:n.2758+11T>C | |
| NM_012224.2:c.2890+11T>C | NP_036356.1:n.2890+11T>C | |
| XM_006714228.1:c.2797+11T>C | XP_006714291.1:n.2797+11T>C | |
| XM_011532003.1:c.2890+11T>C | XP_011530305.1:n.2890+11T>C | |
| XM_011532004.1:c.2758+11T>C | XP_011530306.1:n.2758+11T>C | |
| XM_017008249.1:c.2353+11T>C | XP_016863738.1:n.2353+11T>C | |
| XM_017008251.1:c.2269+11T>C | XP_016863740.1:n.2269+11T>C | |
| XM_017008252.2:c.2269+11T>C | XP_016863741.1:n.2269+11T>C | |
| XM_017008253.1:c.1822+11T>C | XP_016863742.1:n.1822+11T>C | |
| XM_017008254.1:c.1618+11T>C | XP_016863743.1:n.1618+11T>C | |
| XM_024454065.1:c.2353+11T>C | XP_024309833.1:n.2353+11T>C | |
| XR_001741233.1:n.3259+11T>C | ||
| NM_001199397.3:c.2974+11T>C MANE Select | NP_001186326.1:n.2974+11T>C | |
| NM_001199398.2:c.2842+11T>C | NP_001186327.1:n.2842+11T>C | |
| NM_001199399.2:c.2683+11T>C | NP_001186328.1:n.2683+11T>C | |
| NM_001199400.2:c.2758+11T>C | NP_001186329.1:n.2758+11T>C | |
| NM_001374418.1:c.2974+11T>C | NP_001361347.1:n.2974+11T>C | |
| NM_001374419.1:c.2890+11T>C | NP_001361348.1:n.2890+11T>C | |
| NM_001374420.1:c.2839+11T>C | NP_001361349.1:n.2839+11T>C | |
| NM_001374421.1:c.2491+11T>C | NP_001361350.1:n.2491+11T>C | |
| NM_012224.3:c.2890+11T>C | NP_036356.1:n.2890+11T>C | |
| NR_164630.1:n.3436+11T>C | ||
| NM_001199398.3:c.2842+11T>C | NP_001186327.1:n.2842+11T>C | |
| NM_001199399.3:c.2683+11T>C | NP_001186328.1:n.2683+11T>C | |
| NM_001199400.3:c.2758+11T>C | NP_001186329.1:n.2758+11T>C | |
| NM_012224.4:c.2890+11T>C | NP_036356.1:n.2890+11T>C |