gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90149169G>T , CM000676.2:g.90149169G>T | GRCh38 |
| NC_000014.8:g.90615513G>T , CM000676.1:g.90615513G>T | GRCh37 |
| NC_000014.7:g.89685266G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282146.5:c.335-34942G>T MANE Select | ENSP00000282146.4:n.335-34942G>T | |
| ENST00000282146.4:c.335-34942G>T | ENSP00000282146.4:n.335-34942G>T | |
| NM_022054.3:c.335-34942G>T | NP_071337.2:n.335-34942G>T | |
| NM_022054.4:c.335-34942G>T MANE Select | NP_071337.2:n.335-34942G>T |