gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100406823C>A , CM000669.2:g.100406823C>A | GRCh38 |
| NC_000007.13:g.100004446C>A , CM000669.1:g.100004446C>A | GRCh37 |
| NC_000007.12:g.99842382C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695664.1:c.-884+7483C>A | ENSP00000512092.1:n.-884+7483C>A | |
| ENST00000695707.1:c.-667+2989C>A | ENSP00000512107.1:n.-667+2989C>A | |
| ENST00000695708.1:c.-1208+7211C>A | ENSP00000512108.1:n.-1208+7211C>A | |
| ENST00000684423.1:c.1069-25G>T MANE Select | ENSP00000507762.1:n.1069-25G>T | |
| ENST00000360951.8:c.1069-25G>T | ENSP00000354210.4:n.1069-25G>T | |
| ENST00000398027.6:c.1066-25G>T | ENSP00000381109.2:n.1066-25G>T | |
| ENST00000471336.1:c.316-25G>T | ENSP00000418351.1:n.316-25G>T | |
| ENST00000490089.1:n.946-25G>T | ||
| ENST00000490721.5:c.706-25G>T | ENSP00000419187.1:n.706-25G>T | |
| NM_001258008.1:c.1069-25G>T | NP_001244937.1:n.1069-25G>T | |
| NM_017984.4:c.1066-25G>T | NP_060454.3:n.1066-25G>T | |
| XM_005250479.1:c.1072-25G>T | XP_005250536.1:n.1072-25G>T | |
| XM_005250480.1:c.1072-25G>T | XP_005250537.1:n.1072-25G>T | |
| XM_005250481.3:c.996-25G>T | XP_005250538.1:n.996-25G>T | |
| XM_006716035.2:c.1072-25G>T | XP_006716098.1:n.1072-25G>T | |
| XM_006716036.2:c.1072-25G>T | XP_006716099.1:n.1072-25G>T | |
| XM_006716037.2:c.1069-25G>T | XP_006716100.1:n.1069-25G>T | |
| XM_006716038.2:c.1069-25G>T | XP_006716101.1:n.1069-25G>T | |
| XM_006716040.2:c.1072-25G>T | XP_006716103.1:n.1072-25G>T | |
| XM_011516366.1:c.706-25G>T | XP_011514668.1:n.706-25G>T | |
| XM_005250479.3:c.1072-25G>T | XP_005250536.1:n.1072-25G>T | |
| XM_005250480.3:c.1072-25G>T | XP_005250537.1:n.1072-25G>T | |
| XM_006716035.4:c.1072-25G>T | XP_006716098.1:n.1072-25G>T | |
| XM_006716036.3:c.1072-25G>T | XP_006716099.1:n.1072-25G>T | |
| XM_006716037.4:c.1069-25G>T | XP_006716100.1:n.1069-25G>T | |
| XM_006716038.4:c.1069-25G>T | XP_006716101.1:n.1069-25G>T | |
| XM_006716040.4:c.1072-25G>T | XP_006716103.1:n.1072-25G>T | |
| XM_017012379.2:c.1069-25G>T | XP_016867868.1:n.1069-25G>T | |
| XM_017012380.2:c.1069-25G>T | XP_016867869.1:n.1069-25G>T | |
| XM_024446815.1:c.1069-25G>T | XP_024302583.1:n.1069-25G>T | |
| XM_024446816.1:c.1072-25G>T | XP_024302584.1:n.1072-25G>T | |
| XM_024446817.1:c.996-25G>T | XP_024302585.1:n.996-25G>T | |
| XM_024446818.1:c.993-25G>T | XP_024302586.1:n.993-25G>T | |
| NM_001258008.2:c.1069-25G>T | NP_001244937.1:n.1069-25G>T | |
| NM_017984.5:c.1066-25G>T | NP_060454.3:n.1066-25G>T | |
| NM_001258008.3:c.1069-25G>T | NP_001244937.1:n.1069-25G>T | |
| NM_001386008.1:c.283-25G>T | NP_001372937.1:n.283-25G>T | |
| NM_001386009.1:c.865-25G>T | NP_001372938.1:n.865-25G>T | |
| NM_001386010.1:c.1069-25G>T MANE Select | NP_001372939.1:n.1069-25G>T | |
| NM_001386011.1:c.676-25G>T | NP_001372940.1:n.676-25G>T | |
| NM_001386012.1:c.676-25G>T | NP_001372941.1:n.676-25G>T | |
| NM_001386013.1:c.1072-25G>T | NP_001372942.1:n.1072-25G>T | |
| NM_001386015.1:c.466-25G>T | NP_001372944.1:n.466-25G>T | |
| NM_001386016.1:c.1069-25G>T | NP_001372945.1:n.1069-25G>T | |
| NM_001386017.1:c.1072-25G>T | NP_001372946.1:n.1072-25G>T | |
| NM_001386018.1:c.1072-25G>T | NP_001372947.1:n.1072-25G>T | |
| NM_001386019.1:c.865-25G>T | NP_001372948.1:n.865-25G>T | |
| NM_001386020.1:c.1069-25G>T | NP_001372949.1:n.1069-25G>T | |
| NM_001386021.1:c.469-25G>T | NP_001372950.1:n.469-25G>T | |
| NM_001386022.1:c.1069-25G>T | NP_001372951.1:n.1069-25G>T | |
| NM_001386023.1:c.868-25G>T | NP_001372952.1:n.868-25G>T | |
| NM_001388066.1:c.-60-25G>T | NP_001374995.1:n.-60-25G>T | |
| NM_017984.6:c.1066-25G>T | NP_060454.3:n.1066-25G>T | |
| NR_169828.1:n.482-25G>T | ||
| NR_169829.1:n.605-25G>T | ||
| NR_169830.1:n.482-25G>T | ||
| NR_169831.1:n.558-25G>T | ||
| NR_169832.1:n.890-25G>T | ||
| NR_169834.1:n.833-25G>T | ||
| NR_169835.1:n.361-25G>T | ||
| NR_169836.1:n.575-25G>T | ||
| NR_169837.1:n.575-25G>T | ||
| NR_169838.1:n.575-25G>T | ||
| NR_169839.1:n.499-25G>T |