gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117263062C>T , CM000672.2:g.117263062C>T | GRCh38 |
| NC_000010.10:g.119022573C>T , CM000672.1:g.119022573C>T | GRCh37 |
| NC_000010.9:g.119012563C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644641.2:c.992-3671C>T MANE Select | ENSP00000496339.1:n.992-3671C>T | |
| ENST00000298472.9:c.992-3671C>T | ENSP00000298472.5:n.992-3671C>T | |
| ENST00000497497.1:n.1408-3671C>T | ||
| NM_003054.4:c.992-3671C>T | NP_003045.2:n.992-3671C>T | |
| NM_003054.5:c.992-3671C>T | NP_003045.2:n.992-3671C>T | |
| NM_003054.6:c.992-3671C>T MANE Select | NP_003045.2:n.992-3671C>T |