gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04457152 (AFR)
Genomes Max Group AF
0.04457152 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35779997A>G , CM000667.2:g.35779997A>G | GRCh38 |
| NC_000005.9:g.35780099A>G , CM000667.1:g.35780099A>G | GRCh37 |
| NC_000005.8:g.35815856A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356031.8:c.4447+651A>G MANE Select | ENSP00000348314.3:n.4447+651A>G | |
| ENST00000637061.1:c.519+651A>G | ||
| ENST00000637569.1:c.4447+651A>G | ENSP00000490886.1:n.4447+651A>G | |
| ENST00000356031.7:c.4447+651A>G | ENSP00000348314.3:n.4447+651A>G | |
| ENST00000440995.6:c.4432+651A>G | ENSP00000412125.2:n.4432+651A>G | |
| ENST00000506526.5:c.399+651A>G | ||
| ENST00000513078.1:c.179+651A>G | ||
| NM_024867.3:c.4447+651A>G | NP_079143.3:n.4447+651A>G | |
| XM_005248376.3:c.4447+651A>G | XP_005248433.1:n.4447+651A>G | |
| XM_005248377.2:c.4432+651A>G | XP_005248434.1:n.4432+651A>G | |
| XM_006714501.2:c.4447+651A>G | XP_006714564.1:n.4447+651A>G | |
| XM_011514135.1:c.4447+651A>G | XP_011512437.1:n.4447+651A>G | |
| XM_011514136.1:c.4447+651A>G | XP_011512438.1:n.4447+651A>G | |
| XM_011514137.1:c.4432+651A>G | XP_011512439.1:n.4432+651A>G | |
| XM_011514138.1:c.4423+651A>G | XP_011512440.1:n.4423+651A>G | |
| XM_011514139.1:c.4372+651A>G | XP_011512441.1:n.4372+651A>G | |
| XM_011514140.1:c.4276+651A>G | XP_011512442.1:n.4276+651A>G | |
| XM_011514141.1:c.4021+651A>G | XP_011512443.1:n.4021+651A>G | |
| XM_011514142.1:c.4423+651A>G | XP_011512444.1:n.4423+651A>G | |
| XM_011514143.1:c.1012+651A>G | XP_011512445.1:n.1012+651A>G | |
| XR_925655.1:n.4663+651A>G | ||
| XR_925656.1:n.4662+651A>G | ||
| XM_005248376.4:c.4447+651A>G | XP_005248433.1:n.4447+651A>G | |
| XM_005248377.4:c.4432+651A>G | XP_005248434.1:n.4432+651A>G | |
| XM_011514135.3:c.4447+651A>G | XP_011512437.1:n.4447+651A>G | |
| XM_011514136.3:c.4447+651A>G | XP_011512438.1:n.4447+651A>G | |
| XM_011514137.3:c.4432+651A>G | XP_011512439.1:n.4432+651A>G | |
| XM_011514138.3:c.4423+651A>G | XP_011512440.1:n.4423+651A>G | |
| XM_011514139.3:c.4372+651A>G | XP_011512441.1:n.4372+651A>G | |
| XM_011514140.2:c.4276+651A>G | XP_011512442.1:n.4276+651A>G | |
| XM_011514141.3:c.4021+651A>G | XP_011512443.1:n.4021+651A>G | |
| XM_017009880.2:c.4261+651A>G | XP_016865369.1:n.4261+651A>G | |
| XM_017009881.2:c.4021+651A>G | XP_016865370.1:n.4021+651A>G | |
| XM_024446219.1:c.4201+651A>G | XP_024301987.1:n.4201+651A>G | |
| XR_001742273.2:n.4550+651A>G | ||
| XR_001742634.1:n.1703+74323T>C | ||
| XR_001742635.1:n.1600+74323T>C | ||
| XR_925655.2:n.4550+651A>G | ||
| XR_925656.3:n.4550+651A>G | ||
| NM_024867.4:c.4447+651A>G MANE Select | NP_079143.3:n.4447+651A>G |