Linked Data
ClinVar Variation Id:
707376
dbSNP Id:
rs781805300
ExAC:
X:148568493 G / A
gnomAD v2:
X-148568493-G-A
gnomAD v3:
X-149486962-G-A
gnomAD v4:
X-149486962-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149486962G>A , CM000685.2:g.149486962G>A | GRCh38 |
| NC_000023.10:g.148568493G>A , CM000685.1:g.148568493G>A | GRCh37 |
| NC_000023.9:g.148376398G>A | NCBI36 |
| NG_011900.3:g.23373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1143C>T MANE Select | ENSP00000339801.6:p.Leu381= | |
| ENST00000651111.1:c.510C>T | ENSP00000498395.1:p.Leu170= | |
| ENST00000340855.10:c.1143C>T | ENSP00000339801.6:p.Leu381= | |
| ENST00000422081.6:c.510C>T | ENSP00000477056.1:p.Leu170= | |
| ENST00000441880.1:n.250C>T | ||
| NM_000202.6:c.1143C>T | NP_000193.1:p.Leu381= | |
| NM_001166550.2:c.873C>T | NP_001160022.1:p.Leu291= | |
| NM_000202.7:c.1143C>T | NP_000193.1:p.Leu381= | |
| NM_001166550.3:c.873C>T | NP_001160022.1:p.Leu291= | |
| NM_000202.8:c.1143C>T MANE Select | NP_000193.1:p.Leu381= | |
| NM_001166550.4:c.873C>T | NP_001160022.1:p.Leu291= |