gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30708068 (MID)
Genomes Max Group AF
0.27029114 (AFR)
Exomes Max Group AF
0.30725729 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.894671C>T , CM000674.2:g.894671C>T | GRCh38 |
| NC_000012.11:g.1003837C>T , CM000674.1:g.1003837C>T | GRCh37 |
| NC_000012.10:g.874098C>T | NCBI36 |
| NG_007984.2:g.146613C>T | |
| NG_007984.3:g.146613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5583+36C>T MANE Select | ENSP00000313059.6:n.5583+36C>T | |
| ENST00000340908.9:c.6339+36C>T MANE Plus Clinical | ENSP00000341292.5:n.6339+36C>T | |
| ENST00000675631.1:c.4362+36C>T | ENSP00000502415.1:n.4362+36C>T | |
| ENST00000676347.1:c.3030+36C>T | ENSP00000501875.1:n.3030+36C>T | |
| ENST00000315939.10:c.5583+36C>T | ENSP00000313059.6:n.5583+36C>T | |
| ENST00000340908.8:c.6339+36C>T | ENSP00000341292.5:n.6339+36C>T | |
| ENST00000530271.6:c.6822+36C>T | ENSP00000433548.3:n.6822+36C>T | |
| ENST00000535572.5:c.4839+36C>T | ENSP00000441972.1:n.4839+36C>T | |
| ENST00000537687.5:c.6363+36C>T | ENSP00000444465.1:n.6363+36C>T | |
| NM_001184985.1:c.6363+36C>T | NP_001171914.1:n.6363+36C>T | |
| NM_014823.2:c.4839+36C>T | NP_055638.2:n.4839+36C>T | |
| NM_018979.3:c.5583+36C>T | NP_061852.3:n.5583+36C>T | |
| NM_213655.4:c.6339+36C>T | NP_998820.3:n.6339+36C>T | |
| XM_006719003.1:c.5580+36C>T | XP_006719066.1:n.5580+36C>T | |
| XM_011520997.1:c.6822+36C>T | XP_011519299.1:n.6822+36C>T | |
| XM_011520998.1:c.6819+36C>T | XP_011519300.1:n.6819+36C>T | |
| XM_011520999.1:c.6819+36C>T | XP_011519301.1:n.6819+36C>T | |
| XM_011521000.1:c.6822+36C>T | XP_011519302.1:n.6822+36C>T | |
| XM_011521001.1:c.6543+36C>T | XP_011519303.1:n.6543+36C>T | |
| XM_011521002.1:c.6360+36C>T | XP_011519304.1:n.6360+36C>T | |
| XM_011521003.1:c.6084+36C>T | XP_011519305.1:n.6084+36C>T | |
| XM_011521004.1:c.6081+36C>T | XP_011519306.1:n.6081+36C>T | |
| XM_011521005.1:c.5601+36C>T | XP_011519307.1:n.5601+36C>T | |
| XM_011521006.1:c.5499+36C>T | XP_011519308.1:n.5499+36C>T | |
| XM_011521007.1:c.5496+36C>T | XP_011519309.1:n.5496+36C>T | |
| XM_011521008.1:c.4761+36C>T | XP_011519310.1:n.4761+36C>T | |
| XM_011521009.1:c.4758+36C>T | XP_011519311.1:n.4758+36C>T | |
| XM_006719003.2:c.5580+36C>T | XP_006719066.1:n.5580+36C>T | |
| XM_011520997.3:c.6822+36C>T | XP_011519299.1:n.6822+36C>T | |
| XM_011520998.2:c.6819+36C>T | XP_011519300.1:n.6819+36C>T | |
| XM_011520999.2:c.6819+36C>T | XP_011519301.1:n.6819+36C>T | |
| XM_011521000.2:c.6822+36C>T | XP_011519302.1:n.6822+36C>T | |
| XM_011521001.2:c.6543+36C>T | XP_011519303.1:n.6543+36C>T | |
| XM_011521002.2:c.6360+36C>T | XP_011519304.1:n.6360+36C>T | |
| XM_011521003.2:c.6084+36C>T | XP_011519305.1:n.6084+36C>T | |
| XM_011521004.2:c.6081+36C>T | XP_011519306.1:n.6081+36C>T | |
| XM_011521005.2:c.5601+36C>T | XP_011519307.1:n.5601+36C>T | |
| XM_011521006.2:c.5499+36C>T | XP_011519308.1:n.5499+36C>T | |
| XM_011521007.2:c.5496+36C>T | XP_011519309.1:n.5496+36C>T | |
| XM_011521008.2:c.4761+36C>T | XP_011519310.1:n.4761+36C>T | |
| XM_011521009.2:c.4758+36C>T | XP_011519311.1:n.4758+36C>T | |
| XM_017019834.1:c.5121+36C>T | XP_016875323.1:n.5121+36C>T | |
| XM_017019835.1:c.5040+36C>T | XP_016875324.1:n.5040+36C>T | |
| XM_017019836.1:c.5037+36C>T | XP_016875325.1:n.5037+36C>T | |
| XM_017019837.1:c.4845+36C>T | XP_016875326.1:n.4845+36C>T | |
| XM_017019838.1:c.4842+36C>T | XP_016875327.1:n.4842+36C>T | |
| XM_017019839.1:c.4761+36C>T | XP_016875328.1:n.4761+36C>T | |
| NM_018979.4:c.5583+36C>T MANE Select | NP_061852.3:n.5583+36C>T | |
| NM_014823.3:c.4839+36C>T | NP_055638.2:n.4839+36C>T | |
| NM_001184985.2:c.6363+36C>T | NP_001171914.1:n.6363+36C>T | |
| NM_213655.5:c.6339+36C>T MANE Plus Clinical | NP_998820.3:n.6339+36C>T |