gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50843708 (AFR)
Genomes Max Group AF
0.50843708 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77404018T>A , CM000679.2:g.77404018T>A | GRCh38 |
| NC_000017.10:g.75400100T>A , CM000679.1:g.75400100T>A | GRCh37 |
| NC_000017.9:g.72911695T>A | NCBI36 |
| NG_011683.1:g.127609T>A | |
| NG_011683.2:g.127609T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.667+1315T>A MANE Plus Clinical | ENSP00000329161.8:n.667+1315T>A | |
| ENST00000427177.6:c.721+1315T>A MANE Select | ENSP00000391249.1:n.721+1315T>A | |
| ENST00000588690.6:c.229+1315T>A | ENSP00000468668.1:n.229+1315T>A | |
| ENST00000590294.6:n.770+1315T>A | ||
| ENST00000329047.12:c.667+1315T>A | ENSP00000329161.8:n.667+1315T>A | |
| ENST00000423034.6:c.700+1315T>A | ENSP00000405877.1:n.700+1315T>A | |
| ENST00000427177.5:c.721+1315T>A | ENSP00000391249.1:n.721+1315T>A | |
| ENST00000427674.6:c.229+1315T>A | ENSP00000403194.1:n.229+1315T>A | |
| ENST00000431235.6:c.229+1315T>A | ENSP00000406987.2:n.229+1315T>A | |
| ENST00000449803.6:c.229+1315T>A | ENSP00000400181.2:n.229+1315T>A | |
| ENST00000588575.1:c.195+1523T>A | ENSP00000468090.1:n.195+1523T>A | |
| ENST00000588690.5:c.229+1315T>A | ENSP00000468668.1:n.229+1315T>A | |
| ENST00000590059.5:c.172+1315T>A | ENSP00000466164.1:n.172+1315T>A | |
| ENST00000590294.5:c.667+1315T>A | ENSP00000465464.1:n.667+1315T>A | |
| ENST00000591198.5:c.664+1315T>A | ENSP00000468406.1:n.664+1315T>A | |
| ENST00000592420.1:c.148+1315T>A | ENSP00000467051.1:n.148+1315T>A | |
| NM_001113491.1:c.721+1315T>A | NP_001106963.1:n.721+1315T>A | |
| NM_001113492.1:c.229+1315T>A | NP_001106964.1:n.229+1315T>A | |
| NM_001113493.1:c.700+1315T>A | NP_001106965.1:n.700+1315T>A | |
| NM_001113494.1:c.229+1315T>A | NP_001106966.1:n.229+1315T>A | |
| NM_001293695.1:c.664+1315T>A | NP_001280624.1:n.664+1315T>A | |
| NM_006640.4:c.667+1315T>A | NP_006631.2:n.667+1315T>A | |
| XM_006721643.2:c.229+1315T>A | XP_006721706.1:n.229+1315T>A | |
| XM_011524204.1:c.814+1315T>A | XP_011522506.1:n.814+1315T>A | |
| XM_011524205.1:c.811+1315T>A | XP_011522507.1:n.811+1315T>A | |
| XM_011524206.1:c.676+1315T>A | XP_011522508.1:n.676+1315T>A | |
| XM_011524207.1:c.229+1315T>A | XP_011522509.1:n.229+1315T>A | |
| NM_001113491.2:c.721+1315T>A MANE Select | NP_001106963.1:n.721+1315T>A | |
| NM_001113493.2:c.700+1315T>A | NP_001106965.1:n.700+1315T>A | |
| NM_001293695.2:c.664+1315T>A | NP_001280624.1:n.664+1315T>A | |
| NM_001113492.2:c.229+1315T>A | NP_001106964.1:n.229+1315T>A | |
| NM_006640.5:c.667+1315T>A MANE Plus Clinical | NP_006631.2:n.667+1315T>A |