gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41514664 (MID)
Genomes Max Group AF
0.41213479 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95390993A>G , CM000669.2:g.95390993A>G | GRCh38 |
| NC_000007.13:g.95020305A>G , CM000669.1:g.95020305A>G | GRCh37 |
| NC_000007.12:g.94858241A>G | NCBI36 |
| NG_008726.1:g.10383T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265627.10:c.146-784T>C MANE Select | ENSP00000265627.5:n.146-784T>C | |
| ENST00000265627.9:c.146-784T>C | ENSP00000265627.5:n.146-784T>C | |
| ENST00000418617.5:c.*27-784T>C | ENSP00000393174.1:n.*27-784T>C | |
| ENST00000427422.5:c.146-784T>C | ENSP00000413276.1:n.146-784T>C | |
| ENST00000442770.5:c.*27-784T>C | ENSP00000390253.1:n.*27-784T>C | |
| ENST00000451904.5:c.146-784T>C | ENSP00000403850.1:n.146-784T>C | |
| ENST00000456855.5:c.145+3651T>C | ENSP00000391072.1:n.145+3651T>C | |
| ENST00000475439.1:n.334-784T>C | ||
| ENST00000482624.5:n.164-784T>C | ||
| NM_000940.2:c.146-784T>C | NP_000931.1:n.146-784T>C | |
| NM_000940.3:c.146-784T>C MANE Select | NP_000931.1:n.146-784T>C |