ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21737655C>A , CM000685.2:g.21737655C>A | GRCh38 |
| NC_000023.10:g.21755773C>A , CM000685.1:g.21755773C>A | GRCh37 |
| NC_000023.9:g.21665694C>A | NCBI36 |
| NG_031916.1:g.25506G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379494.4:c.175G>T MANE Select | ENSP00000368808.3:p.Gly59Ter | |
| ENST00000646008.1:c.175G>T | ENSP00000493671.1:p.Gly59Ter | |
| ENST00000379494.3:c.175G>T | ENSP00000368808.3:p.Gly59Ter | |
| ENST00000494525.1:n.268G>T | ||
| NM_014332.2:c.175G>T | NP_055147.1:p.Gly59Ter | |
| NR_045617.1:n.406G>T | ||
| NM_014332.3:c.175G>T MANE Select | NP_055147.1:p.Gly59Ter | |
| NR_045617.2:n.362G>T |