gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595104C>T , CM000680.2:g.31595104C>T | GRCh38 |
| NC_000018.9:g.29175067C>T , CM000680.1:g.29175067C>T | GRCh37 |
| NC_000018.8:g.27429065C>T | NCBI36 |
| NG_009490.1:g.8338C>T , LRG_416:g.8338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.201-16C>T MANE Select | ENSP00000237014.4:n.201-16C>T | |
| ENST00000610404.5:c.105-16C>T | ENSP00000477599.2:n.105-16C>T | |
| ENST00000649620.1:c.201-16C>T | ENSP00000497927.1:n.201-16C>T | |
| ENST00000237014.7:c.201-16C>T | ENSP00000237014.3:n.201-16C>T | |
| ENST00000541025.2:n.227-16C>T | ||
| ENST00000610404.4:c.201-16C>T | ENSP00000477599.1:n.201-16C>T | |
| ENST00000613781.1:c.201-16C>T | ENSP00000479174.1:n.201-16C>T | |
| NM_000371.3:c.201-16C>T , LRG_416t1:c.201-16C>T | NP_000362.1:n.201-16C>T | |
| NM_000371.4:c.201-16C>T MANE Select | NP_000362.1:n.201-16C>T |