gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55089065T>A , CM000666.2:g.55089065T>A | GRCh38 |
| NC_000004.11:g.55955232T>A , CM000666.1:g.55955232T>A | GRCh37 |
| NC_000004.10:g.55649989T>A | NCBI36 |
| NG_012004.1:g.41531A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3405-92A>T MANE Select | ENSP00000263923.4:n.3405-92A>T | |
| ENST00000647068.1:n.3418-92A>T | ||
| ENST00000263923.4:c.3405-92A>T | ENSP00000263923.4:n.3405-92A>T | |
| NM_002253.2:c.3405-92A>T | NP_002244.1:n.3405-92A>T | |
| NM_002253.3:c.3405-92A>T | NP_002244.1:n.3405-92A>T | |
| NM_002253.4:c.3405-92A>T MANE Select | NP_002244.1:n.3405-92A>T |