gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23047354 (AFR)
Genomes Max Group AF
0.23047354 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14752741G>A , CM000667.2:g.14752741G>A | GRCh38 |
| NC_000005.9:g.14752850G>A , CM000667.1:g.14752850G>A | GRCh37 |
| NC_000005.8:g.14805850G>A | NCBI36 |
| NG_008273.1:g.124038C>T | |
| NG_008273.2:g.124045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.517-1502C>T MANE Select | ENSP00000284268.6:n.517-1502C>T | |
| ENST00000284268.6:c.517-1502C>T | ENSP00000284268.6:n.517-1502C>T | |
| ENST00000503939.5:n.29-1502C>T | ||
| NM_054027.4:c.517-1502C>T | NP_473368.1:n.517-1502C>T | |
| XM_011514067.1:c.517-1502C>T | XP_011512369.1:n.517-1502C>T | |
| NM_054027.5:c.517-1502C>T | NP_473368.1:n.517-1502C>T | |
| XM_017009644.2:c.433-1502C>T | XP_016865133.1:n.433-1502C>T | |
| NM_054027.6:c.517-1502C>T MANE Select | NP_473368.1:n.517-1502C>T |