Linked Data
ClinVar Variation Id:
288052
dbSNP Id:
rs144911719
ExAC:
X:22151681 C / T
gnomAD v2:
X-22151681-C-T
gnomAD v3:
X-22133564-C-T
gnomAD v4:
X-22133564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22133564C>T , CM000685.2:g.22133564C>T | GRCh38 |
| NC_000023.10:g.22151681C>T , CM000685.1:g.22151681C>T | GRCh37 |
| NC_000023.9:g.22061602C>T | NCBI36 |
| NG_007563.2:g.105761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684745.1:n.1018C>T | ||
| ENST00000379374.5:c.1344C>T MANE Select | ENSP00000368682.4:p.Asp448= | |
| ENST00000379374.4:c.1344C>T | ENSP00000368682.4:p.Asp448= | |
| NM_000444.5:c.1344C>T | NP_000435.3:p.Asp448= | |
| NM_001282754.1:c.1344C>T | NP_001269683.1:p.Asp448= | |
| XM_011545533.1:c.588C>T | XP_011543835.1:p.Asp196= | |
| XM_011545534.1:c.588C>T | XP_011543836.1:p.Asp196= | |
| XM_011545535.1:c.1344C>T | XP_011543837.1:p.Asp448= | |
| XM_011545536.1:c.237C>T | XP_011543838.1:p.Asp79= | |
| XM_011545536.2:c.237C>T | XP_011543838.1:p.Asp79= | |
| XM_017029579.1:c.588C>T | XP_016885068.1:p.Asp196= | |
| XM_024452390.1:c.1053C>T | XP_024308158.1:p.Asp351= | |
| XR_001755695.1:n.2023C>T | ||
| NM_000444.6:c.1344C>T MANE Select | NP_000435.3:p.Asp448= | |
| NM_001282754.2:c.1344C>T | NP_001269683.1:p.Asp448= |