ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21737698C>T , CM000685.2:g.21737698C>T | GRCh38 |
| NC_000023.10:g.21755816C>T , CM000685.1:g.21755816C>T | GRCh37 |
| NC_000023.9:g.21665737C>T | NCBI36 |
| NG_031916.1:g.25463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379494.4:c.133-1G>A MANE Select | ENSP00000368808.3:n.133-1G>A | |
| ENST00000646008.1:c.133-1G>A | ENSP00000493671.1:n.133-1G>A | |
| ENST00000379494.3:c.133-1G>A | ENSP00000368808.3:n.133-1G>A | |
| ENST00000494525.1:n.226-1G>A | ||
| NM_014332.2:c.133-1G>A | NP_055147.1:n.133-1G>A | |
| NR_045617.1:n.364-1G>A | ||
| NM_014332.3:c.133-1G>A MANE Select | NP_055147.1:n.133-1G>A | |
| NR_045617.2:n.320-1G>A |