gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00464667 (MID)
Genomes Max Group AF
0.00013502 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190673836C>T , CM000664.2:g.190673836C>T | GRCh38 |
| NC_000002.11:g.191538562C>T , CM000664.1:g.191538562C>T | GRCh37 |
| NC_000002.10:g.191246807C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337386.10:c.1005+684C>T MANE Select | ENSP00000336894.5:n.1005+684C>T | |
| ENST00000337386.9:c.1005+684C>T | ENSP00000336894.5:n.1005+684C>T | |
| ENST00000409581.5:c.1005+684C>T | ENSP00000387089.1:n.1005+684C>T | |
| ENST00000409641.5:c.1005+684C>T | ENSP00000386682.1:n.1005+684C>T | |
| ENST00000434473.1:c.352+684C>T | ||
| ENST00000484774.1:n.140-9902C>T | ||
| NM_005966.3:c.1005+684C>T | NP_005957.2:n.1005+684C>T | |
| XM_005246579.2:c.1005+684C>T | XP_005246636.1:n.1005+684C>T | |
| XM_005246580.2:c.1005+684C>T | XP_005246637.1:n.1005+684C>T | |
| XM_005246581.1:c.1005+684C>T | XP_005246638.1:n.1005+684C>T | |
| XM_005246582.1:c.1005+684C>T | XP_005246639.1:n.1005+684C>T | |
| XM_005246583.1:c.1005+684C>T | XP_005246640.1:n.1005+684C>T | |
| XM_005246585.1:c.1005+684C>T | XP_005246642.1:n.1005+684C>T | |
| XM_005246586.1:c.1005+684C>T | XP_005246643.1:n.1005+684C>T | |
| XM_005246587.1:c.1005+684C>T | XP_005246644.1:n.1005+684C>T | |
| XM_011511219.1:c.1005+684C>T | XP_011509521.1:n.1005+684C>T | |
| XM_011511220.1:c.954+684C>T | XP_011509522.1:n.954+684C>T | |
| XM_011511221.1:c.930+684C>T | XP_011509523.1:n.930+684C>T | |
| XM_011511222.1:c.930+684C>T | XP_011509524.1:n.930+684C>T | |
| XM_011511223.1:c.849+684C>T | XP_011509525.1:n.849+684C>T | |
| NM_001321312.1:c.1005+684C>T | NP_001308241.1:n.1005+684C>T | |
| NM_001321313.1:c.1005+684C>T | NP_001308242.1:n.1005+684C>T | |
| NM_001321314.1:c.1005+684C>T | NP_001308243.1:n.1005+684C>T | |
| NM_001321315.1:c.1005+684C>T | NP_001308244.1:n.1005+684C>T | |
| XM_011511219.3:c.1005+684C>T | XP_011509521.1:n.1005+684C>T | |
| XM_017004170.1:c.1005+684C>T | XP_016859659.1:n.1005+684C>T | |
| XM_017004171.1:c.1005+684C>T | XP_016859660.1:n.1005+684C>T | |
| XM_017004172.2:c.1005+684C>T | XP_016859661.1:n.1005+684C>T | |
| XM_017004173.1:c.1005+684C>T | XP_016859662.1:n.1005+684C>T | |
| XM_017004174.1:c.1005+684C>T | XP_016859663.1:n.1005+684C>T | |
| XM_017004175.2:c.1005+684C>T | XP_016859664.1:n.1005+684C>T | |
| XM_017004176.1:c.1005+684C>T | XP_016859665.1:n.1005+684C>T | |
| XM_024452917.1:c.1005+684C>T | XP_024308685.1:n.1005+684C>T | |
| NM_005966.4:c.1005+684C>T MANE Select | NP_005957.2:n.1005+684C>T | |
| NM_001321312.2:c.1005+684C>T | NP_001308241.1:n.1005+684C>T |