gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47971111 (AFR)
Genomes Max Group AF
0.47971111 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55084031A>T , CM000666.2:g.55084031A>T | GRCh38 |
| NC_000004.11:g.55950198A>T , CM000666.1:g.55950198A>T | GRCh37 |
| NC_000004.10:g.55644955A>T | NCBI36 |
| NG_012004.1:g.46565T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3663-1396T>A MANE Select | ENSP00000263923.4:n.3663-1396T>A | |
| ENST00000647068.1:n.3676-1396T>A | ||
| ENST00000263923.4:c.3663-1396T>A | ENSP00000263923.4:n.3663-1396T>A | |
| NM_002253.2:c.3663-1396T>A | NP_002244.1:n.3663-1396T>A | |
| NM_002253.3:c.3663-1396T>A | NP_002244.1:n.3663-1396T>A | |
| NM_002253.4:c.3663-1396T>A MANE Select | NP_002244.1:n.3663-1396T>A |