gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20812003 (AFR)
Genomes Max Group AF
0.20812003 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142611975C>T , CM000667.2:g.142611975C>T | GRCh38 |
| NC_000005.9:g.141991540C>T , CM000667.1:g.141991540C>T | GRCh37 |
| NC_000005.8:g.141971724C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337706.7:c.169+1984G>A MANE Select | ENSP00000338548.2:n.169+1984G>A | |
| ENST00000337706.6:c.169+1984G>A | ENSP00000338548.2:n.169+1984G>A | |
| ENST00000359370.10:c.169+1984G>A | ENSP00000352329.6:n.169+1984G>A | |
| ENST00000360966.9:c.169+1984G>A | ENSP00000354231.5:n.169+1984G>A | |
| ENST00000378046.5:c.169+1984G>A | ENSP00000367285.1:n.169+1984G>A | |
| ENST00000394496.2:c.169+1984G>A | ENSP00000378005.2:n.169+1984G>A | |
| ENST00000407758.5:c.169+1984G>A | ENSP00000383969.1:n.169+1984G>A | |
| ENST00000419524.6:c.169+1984G>A | ENSP00000396195.2:n.169+1984G>A | |
| ENST00000441680.6:c.169+1984G>A | ENSP00000404742.2:n.169+1984G>A | |
| ENST00000489937.5:n.634+1984G>A | ||
| ENST00000494344.5:n.634+1984G>A | ||
| ENST00000494579.1:n.46-11170G>A | ||
| ENST00000610990.4:c.169+1984G>A | ENSP00000481868.1:n.169+1984G>A | |
| ENST00000612258.4:c.169+1984G>A | ENSP00000479024.1:n.169+1984G>A | |
| ENST00000619447.4:c.169+1984G>A | ENSP00000480980.1:n.169+1984G>A | |
| ENST00000621536.4:c.169+1984G>A | ENSP00000480791.1:n.169+1984G>A | |
| NM_000800.4:c.169+1984G>A | NP_000791.1:n.169+1984G>A | |
| NM_001144892.2:c.169+1984G>A | NP_001138364.1:n.169+1984G>A | |
| NM_001144934.1:c.169+1984G>A | NP_001138406.1:n.169+1984G>A | |
| NM_001144935.1:c.169+1984G>A | NP_001138407.1:n.169+1984G>A | |
| NM_001257205.1:c.169+1984G>A | NP_001244134.1:n.169+1984G>A | |
| NM_001257206.1:c.169+1984G>A | NP_001244135.1:n.169+1984G>A | |
| NM_001257207.1:c.169+1984G>A | NP_001244136.1:n.169+1984G>A | |
| NM_001257208.1:c.169+1984G>A | NP_001244137.1:n.169+1984G>A | |
| NM_001257209.1:c.169+1984G>A | NP_001244138.1:n.169+1984G>A | |
| NM_001257210.1:c.169+1984G>A | NP_001244139.1:n.169+1984G>A | |
| NM_001257211.1:c.169+1984G>A | NP_001244140.1:n.169+1984G>A | |
| NM_001257212.1:c.169+1984G>A | NP_001244141.1:n.169+1984G>A | |
| NM_033136.3:c.169+1984G>A | NP_149127.1:n.169+1984G>A | |
| NM_033137.2:c.169+1984G>A | NP_149128.1:n.169+1984G>A | |
| XM_005268390.3:c.169+1984G>A | XP_005268447.1:n.169+1984G>A | |
| XM_011537607.1:c.169+1984G>A | XP_011535909.1:n.169+1984G>A | |
| XM_011537608.1:c.169+1984G>A | XP_011535910.1:n.169+1984G>A | |
| NM_001354951.1:c.169+1984G>A | NP_001341880.1:n.169+1984G>A | |
| NM_001354952.1:c.169+1984G>A | NP_001341881.1:n.169+1984G>A | |
| NM_001354953.1:c.169+1984G>A | NP_001341882.1:n.169+1984G>A | |
| NM_001354954.1:c.169+1984G>A | NP_001341883.1:n.169+1984G>A | |
| NM_001354955.1:c.169+1984G>A | NP_001341884.1:n.169+1984G>A | |
| NM_001354956.1:c.169+1984G>A | NP_001341885.1:n.169+1984G>A | |
| NM_001354957.1:c.169+1984G>A | NP_001341886.1:n.169+1984G>A | |
| NM_001354958.1:c.169+1984G>A | NP_001341887.1:n.169+1984G>A | |
| NM_001354959.1:c.169+1984G>A | NP_001341888.1:n.169+1984G>A | |
| NM_001354961.1:c.169+1984G>A | NP_001341890.1:n.169+1984G>A | |
| NM_001354962.1:c.169+1984G>A | NP_001341891.1:n.169+1984G>A | |
| NM_001354963.1:c.169+1984G>A | NP_001341892.1:n.169+1984G>A | |
| NM_001354964.1:c.169+1984G>A | NP_001341893.1:n.169+1984G>A | |
| NM_033137.3:c.169+1984G>A | NP_149128.1:n.169+1984G>A | |
| NM_000800.5:c.169+1984G>A MANE Select | NP_000791.1:n.169+1984G>A | |
| NM_001144892.3:c.169+1984G>A | NP_001138364.1:n.169+1984G>A | |
| NM_001144934.2:c.169+1984G>A | NP_001138406.1:n.169+1984G>A | |
| NM_001144935.2:c.169+1984G>A | NP_001138407.1:n.169+1984G>A | |
| NM_001257206.2:c.169+1984G>A | NP_001244135.1:n.169+1984G>A | |
| NM_001257208.2:c.169+1984G>A | NP_001244137.1:n.169+1984G>A | |
| NM_001257211.2:c.169+1984G>A | NP_001244140.1:n.169+1984G>A | |
| NM_001257212.2:c.169+1984G>A | NP_001244141.1:n.169+1984G>A | |
| NM_001354951.2:c.169+1984G>A | NP_001341880.1:n.169+1984G>A | |
| NM_001354952.2:c.169+1984G>A | NP_001341881.1:n.169+1984G>A | |
| NM_001354953.2:c.169+1984G>A | NP_001341882.1:n.169+1984G>A | |
| NM_001354954.2:c.169+1984G>A | NP_001341883.1:n.169+1984G>A | |
| NM_001354955.2:c.169+1984G>A | NP_001341884.1:n.169+1984G>A | |
| NM_001354956.2:c.169+1984G>A | NP_001341885.1:n.169+1984G>A | |
| NM_001354957.2:c.169+1984G>A | NP_001341886.1:n.169+1984G>A | |
| NM_001354958.2:c.169+1984G>A | NP_001341887.1:n.169+1984G>A | |
| NM_001354959.2:c.169+1984G>A | NP_001341888.1:n.169+1984G>A | |
| NM_001354961.2:c.169+1984G>A | NP_001341890.1:n.169+1984G>A | |
| NM_001354962.2:c.169+1984G>A | NP_001341891.1:n.169+1984G>A | |
| NM_001354963.2:c.169+1984G>A | NP_001341892.1:n.169+1984G>A | |
| NM_001354964.2:c.169+1984G>A | NP_001341893.1:n.169+1984G>A | |
| NM_033136.4:c.169+1984G>A | NP_149127.1:n.169+1984G>A | |
| NM_033137.4:c.169+1984G>A | NP_149128.1:n.169+1984G>A | |
| NM_001257207.2:c.169+1984G>A | NP_001244136.1:n.169+1984G>A | |
| NM_001257210.2:c.169+1984G>A | NP_001244139.1:n.169+1984G>A |