gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12722429 (SAS)
Genomes Max Group AF
0.12722429 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172132527G>A , CM000667.2:g.172132527G>A | GRCh38 |
| NC_000005.9:g.171559531G>A , CM000667.1:g.171559531G>A | GRCh37 |
| NC_000005.8:g.171492136G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176763.10:c.322-5106C>T MANE Select | ENSP00000176763.5:n.322-5106C>T | |
| ENST00000176763.9:c.322-5106C>T | ENSP00000176763.5:n.322-5106C>T | |
| ENST00000519710.1:n.103-5106C>T | ||
| NM_005990.3:c.322-5106C>T | NP_005981.3:n.322-5106C>T | |
| XM_011534641.1:c.322-5106C>T | XP_011532943.1:n.322-5106C>T | |
| XM_011534643.1:c.322-5106C>T | XP_011532945.1:n.322-5106C>T | |
| XM_011534644.1:c.322-5106C>T | XP_011532946.1:n.322-5106C>T | |
| XM_017009788.1:c.-3-5106C>T | XP_016865277.1:n.-3-5106C>T | |
| NM_005990.4:c.322-5106C>T MANE Select | NP_005981.3:n.322-5106C>T |