ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43661285G>A , CM000679.2:g.43661285G>A | GRCh38 |
| NC_000017.10:g.41738653G>A , CM000679.1:g.41738653G>A | GRCh37 |
| NC_000017.9:g.39094179G>A | NCBI36 |
| NG_032987.1:g.5610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318579.9:c.250C>T MANE Select | ENSP00000321684.4:p.Gln84Ter | |
| ENST00000549132.2:c.250C>T | ENSP00000449049.2:p.Gln84Ter | |
| ENST00000318579.8:c.250C>T | ENSP00000321684.4:p.Gln84Ter | |
| ENST00000329168.3:c.250C>T | ENSP00000328678.3:p.Gln84Ter | |
| ENST00000393661.2:c.-96C>T | ENSP00000377271.2:n.-96C>T | |
| ENST00000549132.1:c.162C>T | ENSP00000449049.1:p.Ser54= | |
| NM_001040002.1:c.-96C>T | NP_001035091.1:n.-96C>T | |
| NM_004527.3:c.250C>T | NP_004518.1:p.Gln84Ter | |
| NM_013999.3:c.250C>T | NP_054705.1:p.Gln84Ter | |
| XM_011524818.1:c.250C>T | XP_011523120.1:p.Gln84Ter | |
| XM_011524818.2:c.250C>T | XP_011523120.1:p.Gln84Ter | |
| NM_004527.4:c.250C>T MANE Select | NP_004518.1:p.Gln84Ter | |
| NM_001040002.2:c.-96C>T | NP_001035091.1:n.-96C>T | |
| NM_013999.4:c.250C>T | NP_054705.1:p.Gln84Ter |