Linked Data
ClinVar Variation Id:
1944411
ClinVar RCV Id:
RCV002639753
dbSNP Id:
rs772238348
ExAC:
X:22094508 C / T
gnomAD v2:
X-22094508-C-T
gnomAD v3:
X-22076390-C-T
gnomAD v4:
X-22076390-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22076390C>T , CM000685.2:g.22076390C>T | GRCh38 |
| NC_000023.10:g.22094508C>T , CM000685.1:g.22094508C>T | GRCh37 |
| NC_000023.9:g.22004429C>T | NCBI36 |
| NG_007563.2:g.48588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.778C>T | ||
| ENST00000683214.1:n.545-1086C>T | ||
| ENST00000684143.1:c.352C>T | ENSP00000508264.1:p.Leu118Phe | |
| ENST00000684745.1:n.29C>T | ||
| ENST00000379374.5:c.352C>T MANE Select | ENSP00000368682.4:p.Leu118Phe | |
| ENST00000379374.4:c.352C>T | ENSP00000368682.4:p.Leu118Phe | |
| NM_000444.5:c.352C>T | NP_000435.3:p.Leu118Phe | |
| NM_001282754.1:c.352C>T | NP_001269683.1:p.Leu118Phe | |
| XM_011545535.1:c.352C>T | XP_011543837.1:p.Leu118Phe | |
| XM_017029579.1:c.-93-14039C>T | XP_016885068.1:n.-93-14039C>T | |
| XM_024452390.1:c.61C>T | XP_024308158.1:p.Leu21Phe | |
| XR_001755695.1:n.1031C>T | ||
| NM_000444.6:c.352C>T MANE Select | NP_000435.3:p.Leu118Phe | |
| NM_001282754.2:c.352C>T | NP_001269683.1:p.Leu118Phe |