COSMIC:
COSN6625417 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57553745 (SAS)
Genomes Max Group AF
0.57553745 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.43642928T>C , CM000675.2:g.43642928T>C | GRCh38 |
| NC_000013.10:g.44217064T>C , CM000675.1:g.44217064T>C | GRCh37 |
| NC_000013.9:g.43115064T>C | NCBI36 |
| NG_052843.1:g.149053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690772.1:c.-219+24551A>G MANE Select | ENSP00000509229.1:n.-219+24551A>G | |
| ENST00000261488.10:c.-219+24514A>G | ENSP00000261488.6:n.-219+24514A>G | |
| NM_001242863.1:c.-219+24540A>G | NP_001229792.1:n.-219+24540A>G | |
| NM_017993.3:c.-219+24514A>G | NP_060463.2:n.-219+24514A>G | |
| XM_005266439.2:c.-219+24551A>G | XP_005266496.1:n.-219+24551A>G | |
| XM_011535125.1:c.31+24551A>G | XP_011533427.1:n.31+24551A>G | |
| XM_011535127.1:c.-326+24551A>G | XP_011533429.1:n.-326+24551A>G | |
| XM_011535128.1:c.-277-12275A>G | XP_011533430.1:n.-277-12275A>G | |
| XM_011535129.1:c.-512-12275A>G | XP_011533431.1:n.-512-12275A>G | |
| XM_011535130.1:c.-133-12275A>G | XP_011533432.1:n.-133-12275A>G | |
| XM_011535131.1:c.-433-12275A>G | XP_011533433.1:n.-433-12275A>G | |
| XM_011535132.1:c.-192+24551A>G | XP_011533434.1:n.-192+24551A>G | |
| NM_001242863.2:c.-219+24540A>G | NP_001229792.1:n.-219+24540A>G | |
| NM_001347963.1:c.31+24551A>G | NP_001334892.1:n.31+24551A>G | |
| NM_001347964.1:c.-277-12275A>G | NP_001334893.1:n.-277-12275A>G | |
| NM_001347965.1:c.-219+143724A>G | NP_001334894.1:n.-219+143724A>G | |
| NM_001347966.1:c.-219+24551A>G | NP_001334895.1:n.-219+24551A>G | |
| NM_001347967.1:c.-75+24540A>G | NP_001334896.1:n.-75+24540A>G | |
| NM_001347968.1:c.-271+24551A>G | NP_001334897.1:n.-271+24551A>G | |
| NM_001347969.1:c.-219+24551A>G | NP_001334898.1:n.-219+24551A>G | |
| NM_001347970.1:c.-192+24540A>G | NP_001334899.1:n.-192+24540A>G | |
| NM_001347971.1:c.-192+24551A>G | NP_001334900.1:n.-192+24551A>G | |
| NM_017993.4:c.-219+24514A>G | NP_060463.2:n.-219+24514A>G | |
| XM_011535127.3:c.-326+24551A>G | XP_011533429.1:n.-326+24551A>G | |
| XM_017020637.2:c.-1546-12275A>G | XP_016876126.1:n.-1546-12275A>G | |
| XM_017020641.2:c.-219+24551A>G | XP_016876130.1:n.-219+24551A>G | |
| XM_017020642.2:c.-219+24551A>G | XP_016876131.1:n.-219+24551A>G | |
| XM_024449371.1:c.-219+24551A>G | XP_024305139.1:n.-219+24551A>G | |
| XM_024449372.1:c.-1583-12275A>G | XP_024305140.1:n.-1583-12275A>G | |
| XM_024449373.1:c.-384-12275A>G | XP_024305141.1:n.-384-12275A>G | |
| XR_001749592.2:n.391+24551A>G | ||
| XR_001749593.2:n.391+24551A>G | ||
| XR_001749594.1:n.387-12275A>G | ||
| NM_001242863.3:c.-219+24540A>G | NP_001229792.1:n.-219+24540A>G | |
| NM_001347963.2:c.31+24551A>G | NP_001334892.1:n.31+24551A>G | |
| NM_001347964.2:c.-277-12275A>G | NP_001334893.1:n.-277-12275A>G | |
| NM_001347965.2:c.-219+143724A>G | NP_001334894.1:n.-219+143724A>G | |
| NM_001347966.2:c.-219+24551A>G | NP_001334895.1:n.-219+24551A>G | |
| NM_001347967.2:c.-75+24540A>G | NP_001334896.1:n.-75+24540A>G | |
| NM_001347968.2:c.-271+24551A>G | NP_001334897.1:n.-271+24551A>G | |
| NM_001347969.2:c.-219+24551A>G MANE Select | NP_001334898.1:n.-219+24551A>G | |
| NM_001347970.2:c.-192+24540A>G | NP_001334899.1:n.-192+24540A>G | |
| NM_001347971.2:c.-192+24551A>G | NP_001334900.1:n.-192+24551A>G | |
| NM_017993.5:c.-219+24514A>G | NP_060463.2:n.-219+24514A>G |