gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00110911 (AFR)
Genomes Max Group AF
0.00115006 (AFR)
Exomes Max Group AF
0.00087656 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41966247C>A , CM000669.2:g.41966247C>A | GRCh38 |
| NC_000007.13:g.42005845C>A , CM000669.1:g.42005845C>A | GRCh37 |
| NC_000007.12:g.41972370C>A | NCBI36 |
| NG_008434.1:g.275774G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.2826G>T MANE Select | ENSP00000379258.3:p.Pro942= | |
| ENST00000677288.1:c.2652G>T | ENSP00000503986.1:p.Pro884= | |
| ENST00000677605.1:c.2826G>T | ENSP00000503743.1:p.Pro942= | |
| ENST00000678429.1:c.2826G>T | ENSP00000502957.1:p.Pro942= | |
| ENST00000395925.7:c.2826G>T | ENSP00000379258.3:p.Pro942= | |
| ENST00000479210.1:n.2803G>T | ||
| NM_000168.5:c.2826G>T | NP_000159.3:p.Pro942= | |
| XM_005249703.1:c.2826G>T | XP_005249760.1:p.Pro942= | |
| XM_005249704.2:c.2826G>T | XP_005249761.1:p.Pro942= | |
| XM_011515272.1:c.2826G>T | XP_011513574.1:p.Pro942= | |
| XM_011515273.1:c.2826G>T | XP_011513575.1:p.Pro942= | |
| XM_011515274.1:c.2649G>T | XP_011513576.1:p.Pro883= | |
| XM_011515274.2:c.2649G>T | XP_011513576.1:p.Pro883= | |
| XM_017011997.1:c.2823G>T | XP_016867486.1:p.Pro941= | |
| NM_000168.6:c.2826G>T MANE Select | NP_000159.3:p.Pro942= |