gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7866194T>C , CM000668.2:g.7866194T>C | GRCh38 |
| NC_000006.11:g.7866427T>C , CM000668.1:g.7866427T>C | GRCh37 |
| NC_000006.10:g.7811426T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283147.7:c.1204+3696T>C MANE Select | ENSP00000283147.6:n.1204+3696T>C | |
| ENST00000283147.6:c.1204+3696T>C | ENSP00000283147.6:n.1204+3696T>C | |
| NM_001718.4:c.1204+3696T>C | NP_001709.1:n.1204+3696T>C | |
| NM_001718.5:c.1204+3696T>C | NP_001709.1:n.1204+3696T>C | |
| NM_001718.6:c.1204+3696T>C MANE Select | NP_001709.1:n.1204+3696T>C |