Linked Data
ClinVar Variation Id:
95085
ClinVar RCV Id:
RCV000173343
dbSNP Id:
rs398124160
gnomAD v4:
X-54495258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495258G>A , CM000685.2:g.54495258G>A | GRCh38 |
| NC_000023.10:g.54521691G>A , CM000685.1:g.54521691G>A | GRCh37 |
| NC_000023.9:g.54538416G>A | NCBI36 |
| NG_008054.1:g.5909C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375135.4:c.175C>T MANE Select | ENSP00000364277.3:p.Gln59Ter | |
| ENST00000375135.3:c.175C>T | ENSP00000364277.3:p.Gln59Ter | |
| NM_004463.2:c.175C>T | NP_004454.2:p.Gln59Ter | |
| NM_004463.3:c.175C>T MANE Select | NP_004454.2:p.Gln59Ter |