gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001078 (AFR)
Exomes Max Group AF
0.00001019 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41154048A>G , CM000667.2:g.41154048A>G | GRCh38 |
| NC_000005.9:g.41154150A>G , CM000667.1:g.41154150A>G | GRCh37 |
| NC_000005.8:g.41189907A>G | NCBI36 |
| NG_011582.1:g.112391T>C , LRG_29:g.112391T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337836.10:c.2102-50T>C MANE Select | ENSP00000338861.5:n.2102-50T>C | |
| ENST00000263413.7:c.2102-50T>C | ENSP00000263413.3:n.2102-50T>C | |
| ENST00000337836.9:c.2102-50T>C | ENSP00000338861.5:n.2102-50T>C | |
| ENST00000461473.1:n.134-50T>C | ||
| NM_000065.3:c.2102-50T>C | NP_000056.2:n.2102-50T>C | |
| NM_001115131.2:c.2102-50T>C | NP_001108603.2:n.2102-50T>C | |
| XM_005248357.1:c.2129-50T>C | XP_005248414.1:n.2129-50T>C | |
| XM_006714496.2:c.2186-50T>C | XP_006714559.1:n.2186-50T>C | |
| XM_011514114.1:c.2186-50T>C | XP_011512416.1:n.2186-50T>C | |
| XM_011514115.1:c.2159-50T>C | XP_011512417.1:n.2159-50T>C | |
| XM_011514116.1:c.2159-50T>C | XP_011512418.1:n.2159-50T>C | |
| XM_011514117.1:c.2159-50T>C | XP_011512419.1:n.2159-50T>C | |
| XM_011514118.1:c.2159-50T>C | XP_011512420.1:n.2159-50T>C | |
| XM_011514119.1:c.2129-50T>C | XP_011512421.1:n.2129-50T>C | |
| XM_011514120.1:c.1742-50T>C | XP_011512422.1:n.1742-50T>C | |
| XM_011514121.1:c.1202-50T>C | XP_011512423.1:n.1202-50T>C | |
| XR_925944.1:n.812-7265A>G | ||
| XR_925945.1:n.319-7265A>G | ||
| XR_925946.1:n.770-7265A>G | ||
| XR_925948.1:n.811+40225A>G | ||
| XR_925949.1:n.1832+1349A>G | ||
| XM_005248357.3:c.2129-50T>C | XP_005248414.1:n.2129-50T>C | |
| XM_006714496.4:c.2186-50T>C | XP_006714559.1:n.2186-50T>C | |
| XM_011514114.3:c.2186-50T>C | XP_011512416.1:n.2186-50T>C | |
| XM_011514115.3:c.2159-50T>C | XP_011512417.1:n.2159-50T>C | |
| XM_011514116.3:c.2159-50T>C | XP_011512418.1:n.2159-50T>C | |
| XM_011514117.3:c.2159-50T>C | XP_011512419.1:n.2159-50T>C | |
| XM_011514118.3:c.2159-50T>C | XP_011512420.1:n.2159-50T>C | |
| XM_011514119.3:c.2129-50T>C | XP_011512421.1:n.2129-50T>C | |
| XM_011514121.3:c.1202-50T>C | XP_011512423.1:n.1202-50T>C | |
| XM_017009818.2:c.2159-50T>C | XP_016865307.1:n.2159-50T>C | |
| XM_017009819.2:c.1715-50T>C | XP_016865308.1:n.1715-50T>C | |
| XR_001742650.1:n.812-7265A>G | ||
| XR_001742651.1:n.325-7265A>G | ||
| NM_000065.4:c.2102-50T>C | NP_000056.2:n.2102-50T>C | |
| NM_001115131.3:c.2102-50T>C | NP_001108603.2:n.2102-50T>C | |
| NM_000065.5:c.2102-50T>C MANE Select | NP_000056.2:n.2102-50T>C | |
| NM_001115131.4:c.2102-50T>C | NP_001108603.2:n.2102-50T>C |