gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000361 (NFE)
Exomes Max Group AF
0.00000383 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44350364G>T , CM000679.2:g.44350364G>T | GRCh38 |
| NC_000017.10:g.42427732G>T , CM000679.1:g.42427732G>T | GRCh37 |
| NC_000017.9:g.39783258G>T | NCBI36 |
| NG_007886.1:g.10242G>T , LRG_661:g.10242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.462+24G>T MANE Select | ENSP00000053867.2:n.462+24G>T | |
| ENST00000639447.1:c.462+24G>T | ENSP00000492014.1:n.462+24G>T | |
| ENST00000053867.7:c.462+24G>T | ENSP00000053867.2:n.462+24G>T | |
| ENST00000586782.5:c.462+24G>T | ENSP00000468318.1:n.462+24G>T | |
| ENST00000587387.5:c.504+24G>T | ENSP00000467431.1:n.504+24G>T | |
| ENST00000588143.5:c.462+24G>T | ENSP00000465375.1:n.462+24G>T | |
| ENST00000588237.5:c.265-78G>T | ENSP00000466611.1:n.265-78G>T | |
| ENST00000589265.5:c.462+24G>T | ENSP00000467616.1:n.462+24G>T | |
| ENST00000590984.1:n.52+24G>T | ||
| NM_002087.3:c.462+24G>T | NP_002078.1:n.462+24G>T | |
| XM_005257253.1:c.462+24G>T | XP_005257310.1:n.462+24G>T | |
| XM_024450730.1:c.462+24G>T | XP_024306498.1:n.462+24G>T | |
| NM_002087.4:c.462+24G>T MANE Select | NP_002078.1:n.462+24G>T |