gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28768663 (NFE)
Genomes Max Group AF
0.28768663 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.54278760A>G , CM000680.2:g.54278760A>G | GRCh38 |
| NC_000018.9:g.51805130A>G , CM000680.1:g.51805130A>G | GRCh37 |
| NC_000018.8:g.50059128A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579534.6:c.559+905A>G MANE Select | ENSP00000462664.1:n.559+905A>G | |
| ENST00000217800.9:c.373+905A>G | ENSP00000217800.6:n.373+905A>G | |
| ENST00000406285.7:c.559+905A>G | ENSP00000385196.3:n.559+905A>G | |
| ENST00000577612.5:c.429+905A>G | ||
| ENST00000577971.5:n.2212+905A>G | ||
| ENST00000579434.5:c.250+905A>G | ENSP00000462681.1:n.250+905A>G | |
| ENST00000579534.5:c.559+905A>G | ENSP00000462664.1:n.559+905A>G | |
| ENST00000580880.1:c.250+905A>G | ENSP00000461983.1:n.250+905A>G | |
| ENST00000580905.2:n.285+905A>G | ||
| ENST00000583136.5:c.355+905A>G | ENSP00000463071.1:n.355+905A>G | |
| NM_007195.2:c.559+905A>G | NP_009126.2:n.559+905A>G | |
| XM_005258188.2:c.355+905A>G | XP_005258245.1:n.355+905A>G | |
| XM_005258191.3:c.16+907A>G | XP_005258248.1:n.16+907A>G | |
| XM_005258192.3:c.559+905A>G | XP_005258249.1:n.559+905A>G | |
| XM_006722378.2:c.559+905A>G | XP_006722441.1:n.559+905A>G | |
| XM_011525796.1:c.355+905A>G | XP_011524098.1:n.355+905A>G | |
| XM_011525797.1:c.559+905A>G | XP_011524099.1:n.559+905A>G | |
| NM_001351610.1:c.433+905A>G | NP_001338539.1:n.433+905A>G | |
| NM_001351611.1:c.355+905A>G | NP_001338540.1:n.355+905A>G | |
| NM_001351612.1:c.355+905A>G | NP_001338541.1:n.355+905A>G | |
| NM_001351613.1:c.559+905A>G | NP_001338542.1:n.559+905A>G | |
| NM_001351614.1:c.250+905A>G | NP_001338543.1:n.250+905A>G | |
| NM_001351615.1:c.250+905A>G | NP_001338544.1:n.250+905A>G | |
| NM_001351616.1:c.433+905A>G | NP_001338545.1:n.433+905A>G | |
| NM_001351617.1:c.16+907A>G | NP_001338546.1:n.16+907A>G | |
| NM_001351618.1:c.16+907A>G | NP_001338547.1:n.16+907A>G | |
| NM_001351619.1:c.16+907A>G | NP_001338548.1:n.16+907A>G | |
| NM_001351620.1:c.16+907A>G | NP_001338549.1:n.16+907A>G | |
| NM_001351621.1:c.559+905A>G | NP_001338550.1:n.559+905A>G | |
| NM_001351632.1:c.484+905A>G | NP_001338561.1:n.484+905A>G | |
| NR_147257.1:n.627+905A>G | ||
| XM_005258192.4:c.559+905A>G | XP_005258249.1:n.559+905A>G | |
| XM_024451081.1:c.250+905A>G | XP_024306849.1:n.250+905A>G | |
| NM_001351611.2:c.355+905A>G | NP_001338540.1:n.355+905A>G | |
| NM_001351612.2:c.355+905A>G | NP_001338541.1:n.355+905A>G | |
| NM_001351614.2:c.250+905A>G | NP_001338543.1:n.250+905A>G | |
| NM_001351615.2:c.250+905A>G | NP_001338544.1:n.250+905A>G | |
| NM_001351617.2:c.16+907A>G | NP_001338546.1:n.16+907A>G | |
| NM_001351618.2:c.16+907A>G | NP_001338547.1:n.16+907A>G | |
| NM_001351619.2:c.16+907A>G | NP_001338548.1:n.16+907A>G | |
| NM_001351620.2:c.16+907A>G | NP_001338549.1:n.16+907A>G | |
| NM_001351632.2:c.484+905A>G | NP_001338561.1:n.484+905A>G | |
| NM_007195.3:c.559+905A>G MANE Select | NP_009126.2:n.559+905A>G |