Linked Data
ClinVar Variation Id:
136242
dbSNP Id:
rs140031135
ExAC:
X:74332742 G / A
gnomAD v2:
X-74332742-G-A
gnomAD v3:
X-75112907-G-A
gnomAD v4:
X-75112907-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75112907G>A , CM000685.2:g.75112907G>A | GRCh38 |
| NC_000023.10:g.74332742G>A , CM000685.1:g.74332742G>A | GRCh37 |
| NC_000023.9:g.74249467G>A | NCBI36 |
| NG_007980.1:g.48391C>T | |
| NG_007980.3:g.48377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253577.9:c.315C>T | ENSP00000253577.3:p.Leu105= | |
| ENST00000373394.8:c.312C>T MANE Select | ENSP00000362492.3:p.Leu104= | |
| ENST00000526404.2:c.315C>T | ENSP00000432813.2:p.Leu105= | |
| ENST00000620875.5:c.315C>T | ENSP00000479985.1:p.Leu105= | |
| ENST00000643632.1:c.322C>T | ||
| ENST00000644766.1:c.315C>T | ENSP00000493713.1:p.Leu105= | |
| ENST00000645829.3:c.327C>T | ENSP00000496526.2:p.Leu109= | |
| ENST00000663420.1:n.232C>T | ||
| ENST00000666534.1:n.202C>T | ||
| ENST00000669388.1:n.173C>T | ||
| ENST00000669573.1:c.312C>T | ENSP00000499543.1:p.Leu104= | |
| ENST00000253577.7:c.315C>T | ENSP00000253577.3:p.Leu105= | |
| ENST00000339447.8:c.312C>T | ENSP00000343849.4:p.Leu104= | |
| ENST00000373394.7:c.312C>T | ENSP00000362492.3:p.Leu104= | |
| ENST00000526404.1:c.351C>T | ENSP00000432813.1:p.Leu117= | |
| ENST00000529949.5:c.234C>T | ENSP00000436586.1:p.Leu78= | |
| ENST00000534524.5:c.169-13846C>T | ENSP00000435521.1:n.169-13846C>T | |
| ENST00000620875.4:c.315C>T | ENSP00000479985.1:p.Leu105= | |
| NM_001271696.1:c.312C>T | NP_001258625.1:p.Leu104= | |
| NM_001271697.1:c.312C>T | NP_001258626.1:p.Leu104= | |
| NM_001271698.1:c.234C>T | NP_001258627.1:p.Leu78= | |
| NM_001271699.1:c.315C>T | NP_001258628.1:p.Leu105= | |
| NM_004299.4:c.315C>T | NP_004290.2:p.Leu105= | |
| NM_001271696.2:c.312C>T | NP_001258625.1:p.Leu104= | |
| NM_001271697.2:c.312C>T | NP_001258626.1:p.Leu104= | |
| NM_001271698.2:c.234C>T | NP_001258627.1:p.Leu78= | |
| NM_001271699.2:c.315C>T | NP_001258628.1:p.Leu105= | |
| NM_004299.6:c.315C>T | NP_004290.2:p.Leu105= | |
| NM_001271696.3:c.312C>T MANE Select | NP_001258625.1:p.Leu104= | |
| NM_001271697.3:c.312C>T | NP_001258626.1:p.Leu104= | |
| NM_001271698.3:c.234C>T | NP_001258627.1:p.Leu78= | |
| NM_001271699.3:c.315C>T | NP_001258628.1:p.Leu105= |