Linked Data
dbSNP Id:
rs782064222
ExAC:
X:153063546 C / T
gnomAD v2:
X-153063546-C-T
gnomAD v4:
X-153798091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153798091C>T , CM000685.2:g.153798091C>T | GRCh38 |
| NC_000023.10:g.153063546C>T , CM000685.1:g.153063546C>T | GRCh37 |
| NC_000023.9:g.152716740C>T | NCBI36 |
| NG_041795.1:g.8917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370086.8:c.372C>T MANE Select | ENSP00000359103.3:p.Asp124= | |
| ENST00000320857.7:c.372C>T | ENSP00000317331.3:p.Asp124= | |
| ENST00000370085.3:c.297C>T | ENSP00000359102.3:p.Asp99= | |
| ENST00000370086.7:c.372C>T | ENSP00000359103.3:p.Asp124= | |
| ENST00000370087.5:c.372C>T | ENSP00000359104.1:p.Asp124= | |
| ENST00000447375.1:n.212C>T | ||
| ENST00000460616.5:n.2080C>T | ||
| ENST00000471880.5:n.575C>T | ||
| ENST00000482902.5:n.2199C>T | ||
| ENST00000485612.5:n.487C>T | ||
| ENST00000486204.5:n.444C>T | ||
| NM_001204526.1:c.405C>T | NP_001191455.1:p.Asp135= | |
| NM_001204527.1:c.396C>T | NP_001191456.1:p.Asp132= | |
| NM_006280.2:c.372C>T | NP_006271.1:p.Asp124= | |
| NR_037927.1:n.717C>T | ||
| XM_011531186.1:c.372C>T | XP_011529488.1:p.Asp124= | |
| XM_011531187.1:c.372C>T | XP_011529489.1:p.Asp124= | |
| XM_017029756.1:c.183C>T | XP_016885245.1:p.Asp61= | |
| XM_017029757.1:c.183C>T | XP_016885246.1:p.Asp61= | |
| XM_024452428.1:c.183C>T | XP_024308196.1:p.Asp61= | |
| NM_001204527.2:c.396C>T | NP_001191456.1:p.Asp132= | |
| NM_006280.3:c.372C>T MANE Select | NP_006271.1:p.Asp124= |