gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07195345 (AFR)
Genomes Max Group AF
0.07134783 (AFR)
Exomes Max Group AF
0.07121218 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6056770G>A , CM000666.2:g.6056770G>A | GRCh38 |
| NC_000004.11:g.6058497G>A , CM000666.1:g.6058497G>A | GRCh37 |
| NC_000004.10:g.6109398G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700566.1:n.1906-11C>T (JAKMIP1) | ||
| ENST00000700567.1:n.1279-11C>T (JAKMIP1) | ||
| ENST00000700568.1:n.1725-11C>T (JAKMIP1) | ||
| ENST00000700569.1:c.1606-11C>T (JAKMIP1) | ENSP00000515067.1:n.1606-11C>T | |
| ENST00000700570.1:c.1642-11C>T (JAKMIP1) | ENSP00000515068.1:n.1642-11C>T | |
| ENST00000700571.1:c.1516-11C>T (JAKMIP1) | ENSP00000515069.1:n.1516-11C>T | |
| ENST00000700572.1:c.1585-11C>T (JAKMIP1) | ENSP00000515070.1:n.1585-11C>T | |
| ENST00000700573.1:c.1606-11C>T (JAKMIP1) | ENSP00000515071.1:n.1606-11C>T | |
| ENST00000700574.1:n.4524-11C>T (JAKMIP1) | ||
| ENST00000700575.1:c.1645-11C>T (JAKMIP1) | ENSP00000515072.1:n.1645-11C>T | |
| ENST00000700576.1:n.5738C>T (JAKMIP1) | ||
| ENST00000409021.9:c.1645-11C>T (JAKMIP1) MANE Select | ENSP00000386711.3:n.1645-11C>T | |
| ENST00000409371.8:c.1090-11C>T (JAKMIP1) | ENSP00000387042.3:n.1090-11C>T | |
| ENST00000531445.3:c.-3302-11C>T (C4orf50) | ENSP00000437121.2:n.-3302-11C>T | |
| ENST00000637373.2:c.349-11C>T (JAKMIP1) | ENSP00000490067.1:n.349-11C>T | |
| ENST00000282924.9:c.1645-11C>T (JAKMIP1) | ENSP00000282924.5:n.1645-11C>T | |
| ENST00000409021.7:c.1645-11C>T (JAKMIP1) | ENSP00000386711.3:n.1645-11C>T | |
| ENST00000409371.7:c.1090-11C>T (JAKMIP1) | ENSP00000387042.3:n.1090-11C>T | |
| ENST00000409831.5:c.1645-11C>T (JAKMIP1) | ENSP00000386925.1:n.1645-11C>T | |
| ENST00000410077.2:c.1150-11C>T (JAKMIP1) | ENSP00000386745.2:n.1150-11C>T | |
| ENST00000473053.5:c.1645-11C>T (JAKMIP1) | ENSP00000422004.1:n.1645-11C>T | |
| NM_001099433.1:c.1645-11C>T (JAKMIP1) | NP_001092903.1:n.1645-11C>T | |
| NM_001306133.1:c.1645-11C>T (JAKMIP1) | NP_001293062.1:n.1645-11C>T | |
| NM_001306134.1:c.1150-11C>T (JAKMIP1) | NP_001293063.1:n.1150-11C>T | |
| NM_144720.3:c.1645-11C>T (JAKMIP1) | NP_653321.1:n.1645-11C>T | |
| XM_011513400.1:c.1150-11C>T (JAKMIP1) | XP_011511702.1:n.1150-11C>T | |
| XM_011513400.2:c.1150-11C>T (JAKMIP1) | XP_011511702.1:n.1150-11C>T | |
| XM_017007788.1:c.1645-11C>T (JAKMIP1) | XP_016863277.1:n.1645-11C>T | |
| XM_017007789.1:c.1645-11C>T (JAKMIP1) | XP_016863278.1:n.1645-11C>T | |
| XM_017007790.1:c.1645-11C>T (JAKMIP1) | XP_016863279.1:n.1645-11C>T | |
| XM_017007791.1:c.1645-11C>T (JAKMIP1) | XP_016863280.1:n.1645-11C>T | |
| XM_017007792.1:c.1645-11C>T (JAKMIP1) | XP_016863281.1:n.1645-11C>T | |
| XM_017007793.1:c.1645-11C>T (JAKMIP1) | XP_016863282.1:n.1645-11C>T | |
| XM_017007794.1:c.1645-11C>T (JAKMIP1) | XP_016863283.1:n.1645-11C>T | |
| XM_017007795.1:c.1645-11C>T (JAKMIP1) | XP_016863284.1:n.1645-11C>T | |
| XM_017007796.1:c.1645-11C>T (JAKMIP1) | XP_016863285.1:n.1645-11C>T | |
| XM_017007797.1:c.1150-11C>T (JAKMIP1) | XP_016863286.1:n.1150-11C>T | |
| XM_017007798.1:c.1150-11C>T (JAKMIP1) | XP_016863287.1:n.1150-11C>T | |
| XM_017007799.1:c.1150-11C>T (JAKMIP1) | XP_016863288.1:n.1150-11C>T | |
| XM_024453911.1:c.1645-11C>T (JAKMIP1) | XP_024309679.1:n.1645-11C>T | |
| NM_001099433.2:c.1645-11C>T (JAKMIP1) MANE Select | NP_001092903.1:n.1645-11C>T | |
| NM_144720.4:c.1645-11C>T (JAKMIP1) | NP_653321.1:n.1645-11C>T | |
| NM_001306133.2:c.1645-11C>T (JAKMIP1) | NP_001293062.1:n.1645-11C>T | |
| NM_001306134.2:c.1150-11C>T (JAKMIP1) | NP_001293063.1:n.1150-11C>T |