gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37891422 (NFE)
Genomes Max Group AF
0.37891422 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13497154A>C , CM000680.2:g.13497154A>C | GRCh38 |
| NC_000018.9:g.13497153A>C , CM000680.1:g.13497153A>C | GRCh37 |
| NC_000018.8:g.13487153A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359446.11:c.181+58770A>C MANE Select | ENSP00000352420.5:n.181+58770A>C | |
| ENST00000359446.10:c.181+58770A>C | ENSP00000352420.5:n.181+58770A>C | |
| ENST00000586222.2:c.181+58770A>C | ENSP00000465573.2:n.181+58770A>C | |
| ENST00000587905.6:c.181+58770A>C | ENSP00000465244.2:n.181+58770A>C | |
| ENST00000610087.2:n.99-28256A>C | ||
| ENST00000676672.1:c.181+58770A>C | ENSP00000504500.1:n.181+58770A>C | |
| ENST00000676891.1:c.181+58770A>C | ENSP00000503092.1:n.181+58770A>C | |
| ENST00000677055.1:c.40+109392A>C | ENSP00000504396.1:n.40+109392A>C | |
| ENST00000677304.1:c.*119+32043A>C | ENSP00000503549.1:n.*119+32043A>C | |
| ENST00000677744.1:c.-51+13035A>C | ENSP00000504022.1:n.-51+13035A>C | |
| ENST00000678309.1:c.-51+53292A>C | ENSP00000503755.1:n.-51+53292A>C | |
| ENST00000678400.1:c.-51+32043A>C | ENSP00000502869.1:n.-51+32043A>C | |
| ENST00000678459.1:c.181+58770A>C | ENSP00000504668.1:n.181+58770A>C | |
| ENST00000679091.1:c.181+58770A>C | ENSP00000503185.1:n.181+58770A>C | |
| ENST00000679167.1:c.40+109392A>C | ENSP00000504651.1:n.40+109392A>C | |
| ENST00000679177.1:c.40+109392A>C | ENSP00000504217.1:n.40+109392A>C | |
| ENST00000359446.9:c.181+58770A>C | ENSP00000352420.5:n.181+58770A>C | |
| ENST00000399848.7:c.181+58770A>C | ENSP00000382741.2:n.181+58770A>C | |
| ENST00000587905.5:c.181+58770A>C | ENSP00000465244.1:n.181+58770A>C | |
| ENST00000593236.1:c.-51+5685A>C | ENSP00000466490.1:n.-51+5685A>C | |
| NM_181481.4:c.181+58770A>C | NP_852146.1:n.181+58770A>C | |
| NM_181482.4:c.181+58770A>C | NP_852147.1:n.181+58770A>C | |
| XM_005258140.1:c.181+58770A>C | XP_005258197.1:n.181+58770A>C | |
| XM_006722353.1:c.181+58770A>C | XP_006722416.1:n.181+58770A>C | |
| XM_006722354.1:c.181+58770A>C | XP_006722417.1:n.181+58770A>C | |
| XM_011525737.1:c.40+109392A>C | XP_011524039.1:n.40+109392A>C | |
| XM_011525738.1:c.-51+13035A>C | XP_011524040.1:n.-51+13035A>C | |
| XM_017025961.1:c.133+32043A>C | XP_016881450.1:n.133+32043A>C | |
| XM_017025962.1:c.133+32043A>C | XP_016881451.1:n.133+32043A>C | |
| XM_017025963.2:c.40+109392A>C | XP_016881452.1:n.40+109392A>C | |
| XM_017025964.1:c.40+109392A>C | XP_016881453.1:n.40+109392A>C | |
| XM_017025965.1:c.-51+58770A>C | XP_016881454.1:n.-51+58770A>C | |
| XM_017025966.1:c.-51+58770A>C | XP_016881455.1:n.-51+58770A>C | |
| XM_017025967.1:c.-51+58770A>C | XP_016881456.1:n.-51+58770A>C | |
| XM_017025968.1:c.-51+58770A>C | XP_016881457.1:n.-51+58770A>C | |
| XM_017025969.1:c.-51+13035A>C | XP_016881458.1:n.-51+13035A>C | |
| XM_017025970.1:c.-51+13035A>C | XP_016881459.1:n.-51+13035A>C | |
| XM_024451248.1:c.181+58770A>C | XP_024307016.1:n.181+58770A>C | |
| XM_024451249.1:c.181+58770A>C | XP_024307017.1:n.181+58770A>C | |
| XM_024451250.1:c.181+58770A>C | XP_024307018.1:n.181+58770A>C | |
| XM_024451251.1:c.181+58770A>C | XP_024307019.1:n.181+58770A>C | |
| XM_024451252.1:c.181+58770A>C | XP_024307020.1:n.181+58770A>C | |
| XM_024451253.1:c.181+58770A>C | XP_024307021.1:n.181+58770A>C | |
| XM_024451254.1:c.181+58770A>C | XP_024307022.1:n.181+58770A>C | |
| XM_024451255.1:c.181+58770A>C | XP_024307023.1:n.181+58770A>C | |
| XM_024451256.1:c.181+58770A>C | XP_024307024.1:n.181+58770A>C | |
| XM_024451257.1:c.181+58770A>C | XP_024307025.1:n.181+58770A>C | |
| XM_024451258.1:c.181+58770A>C | XP_024307026.1:n.181+58770A>C | |
| XM_024451259.1:c.181+58770A>C | XP_024307027.1:n.181+58770A>C | |
| XM_024451260.1:c.40+109392A>C | XP_024307028.1:n.40+109392A>C | |
| XR_001753275.1:n.9635+13035A>C | ||
| XR_001753277.1:n.9635+13035A>C | ||
| XR_001753278.1:n.5593+32043A>C | ||
| NM_181482.5:c.181+58770A>C | NP_852147.1:n.181+58770A>C | |
| NM_001378098.1:c.181+58770A>C | NP_001365027.1:n.181+58770A>C | |
| NM_001378099.1:c.181+58770A>C | NP_001365028.1:n.181+58770A>C | |
| NM_001378100.1:c.181+58770A>C MANE Select | NP_001365029.1:n.181+58770A>C | |
| NM_001378101.1:c.181+58770A>C | NP_001365030.1:n.181+58770A>C | |
| NM_181481.5:c.181+58770A>C | NP_852146.1:n.181+58770A>C | |
| NM_001394662.1:c.181+58770A>C | NP_001381591.1:n.181+58770A>C | |
| NM_001394663.1:c.181+58770A>C | NP_001381592.1:n.181+58770A>C | |
| NM_001394664.1:c.181+58770A>C | NP_001381593.1:n.181+58770A>C | |
| NM_001394665.1:c.181+58770A>C | NP_001381594.1:n.181+58770A>C | |
| NM_001394666.1:c.40+109392A>C | NP_001381595.1:n.40+109392A>C | |
| NM_001394667.1:c.40+109392A>C | NP_001381596.1:n.40+109392A>C | |
| NR_172142.1:n.891+32043A>C |