Linked Data
ClinVar Variation Id:
515345
dbSNP Id:
rs782667574
ExAC:
X:152959620 C / T
gnomAD v2:
X-152959620-C-T
gnomAD v3:
X-153694165-C-T
gnomAD v4:
X-153694165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694165C>T , CM000685.2:g.153694165C>T | GRCh38 |
| NC_000023.10:g.152959620C>T , CM000685.1:g.152959620C>T | GRCh37 |
| NC_000023.9:g.152612814C>T | NCBI36 |
| NG_012016.1:g.10869C>T | |
| NG_012016.2:g.10869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1290C>T MANE Select | ENSP00000253122.5:p.Leu430= | |
| ENST00000253122.9:c.1290C>T | ENSP00000253122.5:p.Leu430= | |
| ENST00000413787.1:c.258-39C>T | ENSP00000400463.1:n.258-39C>T | |
| ENST00000430077.6:c.945C>T | ENSP00000403041.2:p.Leu315= | |
| ENST00000442457.1:c.344C>T | ||
| ENST00000485324.1:n.1435C>T | ||
| NM_001142805.1:c.1260C>T | NP_001136277.1:p.Leu420= | |
| NM_001142806.1:c.945C>T | NP_001136278.1:p.Leu315= | |
| NM_005629.3:c.1290C>T | NP_005620.1:p.Leu430= | |
| NM_005629.4:c.1290C>T MANE Select | NP_005620.1:p.Leu430= | |
| NM_001142805.2:c.1260C>T | NP_001136277.1:p.Leu420= |