gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011891 (AMR)
Genomes Max Group AF
0.00021512 (AMR)
Exomes Max Group AF
0.00010843 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204997300C>T , CM000663.2:g.204997300C>T | GRCh38 |
| NC_000001.10:g.204966428C>T , CM000663.1:g.204966428C>T | GRCh37 |
| NC_000001.9:g.203233051C>T | NCBI36 |
| NG_029938.1:g.173647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430393.7:c.3091+5994C>T | ENSP00000415031.3:n.3091+5994C>T | |
| ENST00000513543.6:c.3076+8494C>T | ENSP00000425908.1:n.3076+8494C>T | |
| ENST00000539706.6:c.3136+5994C>T MANE Plus Clinical | ENSP00000438614.2:n.3136+5994C>T | |
| ENST00000339876.11:c.2913C>T MANE Select | ENSP00000344786.6:p.Ile971= | |
| ENST00000430393.6:c.3136+5994C>T | ENSP00000415031.2:n.3136+5994C>T | |
| ENST00000339876.10:c.2913C>T | ENSP00000344786.6:p.Ile971= | |
| ENST00000360049.8:c.3076+8494C>T | ENSP00000353154.4:n.3076+8494C>T | |
| ENST00000367173.7:c.2691+5994C>T | ||
| ENST00000401399.5:c.2913C>T | ENSP00000385637.1:p.Ile971= | |
| ENST00000404076.5:c.3040+5994C>T | ENSP00000385676.1:n.3040+5994C>T | |
| ENST00000404907.5:c.3091+5994C>T | ENSP00000384061.1:n.3091+5994C>T | |
| ENST00000404977.6:n.3549+8494C>T | ||
| ENST00000413225.5:c.159-3870C>T | ||
| ENST00000425360.5:c.462+8494C>T | ||
| ENST00000430393.5:c.3064+5994C>T | ENSP00000415031.1:n.3064+5994C>T | |
| ENST00000447819.1:c.117C>T | ENSP00000416891.1:p.Ile39= | |
| ENST00000492085.1:n.391C>T | ||
| ENST00000495396.5:n.1041-5296C>T | ||
| ENST00000504476.5:c.*1767+8494C>T | ENSP00000422524.1:n.*1767+8494C>T | |
| ENST00000513543.5:c.3076+8494C>T | ENSP00000425908.1:n.3076+8494C>T | |
| ENST00000539706.5:c.3091+5994C>T | ENSP00000438614.1:n.3091+5994C>T | |
| NM_001005388.2:c.2913C>T | NP_001005388.2:p.Ile971= | |
| NM_001160331.1:c.3136+5994C>T | NP_001153803.1:n.3136+5994C>T | |
| NM_001160332.1:c.3091+5994C>T | NP_001153804.1:n.3091+5994C>T | |
| NM_015090.3:c.3076+8494C>T | NP_055905.2:n.3076+8494C>T | |
| XM_005244989.3:c.3367+5994C>T | XP_005245046.2:n.3367+5994C>T | |
| XM_005244991.3:c.3322+5994C>T | XP_005245048.2:n.3322+5994C>T | |
| XM_005244992.3:c.3307+8494C>T | XP_005245049.2:n.3307+8494C>T | |
| XM_005244993.3:c.3271+5994C>T | XP_005245050.2:n.3271+5994C>T | |
| XM_011509311.1:c.3270C>T | XP_011507613.1:p.Ile1090= | |
| XM_011509312.1:c.3498C>T | XP_011507614.1:p.Ile1166= | |
| XM_011509313.1:c.3240C>T | XP_011507615.1:p.Ile1080= | |
| XM_011509314.1:c.3447C>T | XP_011507616.1:p.Ile1149= | |
| XM_011509315.1:c.3189C>T | XP_011507617.1:p.Ile1063= | |
| XM_011509316.1:c.3285C>T | XP_011507618.1:p.Ile1095= | |
| XM_011509317.1:c.3285C>T | XP_011507619.1:p.Ile1095= | |
| XM_011509318.1:c.3573C>T | XP_011507620.1:p.Ile1191= | |
| XM_011509319.1:c.3234C>T | XP_011507621.1:p.Ile1078= | |
| XM_011509320.1:c.3522C>T | XP_011507622.1:p.Ile1174= | |
| XM_011509321.1:c.3155-3870C>T | XP_011507623.1:n.3155-3870C>T | |
| XM_011509322.1:c.3285C>T | XP_011507624.1:p.Ile1095= | |
| XM_011509323.1:c.2964C>T | XP_011507625.1:p.Ile988= | |
| XM_011509324.1:c.3154+5994C>T | XP_011507626.1:n.3154+5994C>T | |
| XM_011509325.1:c.3139+8494C>T | XP_011507627.1:n.3139+8494C>T | |
| XM_011509326.1:c.2833+5994C>T | XP_011507628.1:n.2833+5994C>T | |
| XM_011509327.1:c.2818+8494C>T | XP_011507629.1:n.2818+8494C>T | |
| XM_011509328.1:c.2782+5994C>T | XP_011507630.1:n.2782+5994C>T | |
| XR_921759.1:n.3375C>T | ||
| NM_001365986.1:c.2755+8494C>T | NP_001352915.1:n.2755+8494C>T | |
| XM_005244992.4:c.3307+8494C>T | XP_005245049.2:n.3307+8494C>T | |
| XM_011509311.2:c.3717C>T | XP_011507613.2:p.Ile1239= | |
| XM_011509318.2:c.3573C>T | XP_011507620.1:p.Ile1191= | |
| XM_011509320.2:c.3522C>T | XP_011507622.1:p.Ile1174= | |
| XM_011509321.2:c.3602-3870C>T | XP_011507623.2:n.3602-3870C>T | |
| XM_011509322.2:c.3732C>T | XP_011507624.2:p.Ile1244= | |
| XM_011509323.2:c.3411C>T | XP_011507625.2:p.Ile1137= | |
| XM_011509325.2:c.3586+8494C>T | XP_011507627.2:n.3586+8494C>T | |
| XM_011509326.2:c.3280+5994C>T | XP_011507628.2:n.3280+5994C>T | |
| XM_011509327.2:c.3265+8494C>T | XP_011507629.2:n.3265+8494C>T | |
| XM_011509328.2:c.3229+5994C>T | XP_011507630.2:n.3229+5994C>T | |
| XM_017000733.1:c.3453C>T | XP_016856222.1:p.Ile1151= | |
| XM_017000734.1:c.3402C>T | XP_016856223.1:p.Ile1134= | |
| XM_017000738.1:c.3397+5994C>T | XP_016856227.1:n.3397+5994C>T | |
| XM_017000739.1:c.3382+8494C>T | XP_016856228.1:n.3382+8494C>T | |
| XM_017000740.1:c.3061+8494C>T | XP_016856229.1:n.3061+8494C>T | |
| XM_017000741.1:c.2124C>T | XP_016856230.1:p.Ile708= | |
| XM_017000742.2:c.1803C>T | XP_016856231.1:p.Ile601= | |
| XM_024454283.1:c.3732C>T | XP_024310051.1:p.Ile1244= | |
| XM_024454285.1:c.3687C>T | XP_024310053.1:p.Ile1229= | |
| XM_024454288.1:c.3681C>T | XP_024310056.1:p.Ile1227= | |
| XM_024454292.1:c.3636C>T | XP_024310060.1:p.Ile1212= | |
| XM_024454296.1:c.3360C>T | XP_024310064.1:p.Ile1120= | |
| XM_024454297.1:c.3601+5994C>T | XP_024310065.1:n.3601+5994C>T | |
| XM_024454299.1:c.3556+5994C>T | XP_024310067.1:n.3556+5994C>T | |
| XM_024454300.1:c.2913C>T | XP_024310068.1:p.Ile971= | |
| NM_001005388.3:c.2913C>T MANE Select | NP_001005388.2:p.Ile971= | |
| NM_001160331.2:c.3136+5994C>T MANE Plus Clinical | NP_001153803.1:n.3136+5994C>T | |
| NM_001160332.2:c.3091+5994C>T | NP_001153804.1:n.3091+5994C>T | |
| NM_001378329.1:c.3234C>T | NP_001365258.1:p.Ile1078= | |
| NM_015090.4:c.3076+8494C>T | NP_055905.2:n.3076+8494C>T |