gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13949883 (MID)
Genomes Max Group AF
0.1305976 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39754760T>C , CM000683.2:g.39754760T>C | GRCh38 |
| NC_000021.8:g.41126687T>C , CM000683.1:g.41126687T>C | GRCh37 |
| NC_000021.7:g.40048557T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380588.5:c.100+8462T>C MANE Select | ENSP00000369962.4:n.100+8462T>C | |
| ENST00000380588.4:c.100+8462T>C | ENSP00000369962.4:n.100+8462T>C | |
| ENST00000479378.1:n.206+3383T>C | ||
| NM_001080444.1:c.100+8462T>C | NP_001073913.1:n.100+8462T>C | |
| XM_011529472.1:c.371-10775T>C | XP_011527774.1:n.371-10775T>C | |
| XM_011529473.1:c.371-10775T>C | XP_011527775.1:n.371-10775T>C | |
| XM_011529472.2:c.371-10775T>C | XP_011527774.1:n.371-10775T>C | |
| NM_001080444.2:c.100+8462T>C MANE Select | NP_001073913.1:n.100+8462T>C |