Linked Data
ClinVar Variation Id:
220932
ClinVar RCV Id:
RCV000206696
RCV000334402
RCV000435876
RCV000790303
RCV001310732
RCV003937788
RCV002317742
dbSNP Id:
rs144717157
ExAC:
X:70443792 C / T
gnomAD v2:
X-70443792-C-T
gnomAD v3:
X-71223942-C-T
gnomAD v4:
X-71223942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71223942C>T , CM000685.2:g.71223942C>T | GRCh38 |
| NC_000023.10:g.70443792C>T , CM000685.1:g.70443792C>T | GRCh37 |
| NC_000023.9:g.70360517C>T | NCBI36 |
| NG_008357.1:g.13731C>T , LRG_245:g.13731C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361726.7:c.235C>T MANE Select | ENSP00000354900.6:p.Leu79= | |
| ENST00000374029.2:c.235C>T | ENSP00000363141.1:p.Leu79= | |
| ENST00000447581.2:c.235C>T | ENSP00000407223.2:p.Leu79= | |
| ENST00000645009.2:c.235C>T | ENSP00000494142.2:p.Leu79= | |
| ENST00000646835.1:c.235C>T | ENSP00000494596.1:p.Leu79= | |
| ENST00000647424.1:c.235C>T | ENSP00000495960.1:p.Leu79= | |
| ENST00000674549.1:c.235C>T | ENSP00000502766.1:p.Leu79= | |
| ENST00000674844.1:c.235C>T | ENSP00000502556.1:p.Leu79= | |
| ENST00000675209.1:c.235C>T | ENSP00000501813.1:p.Leu79= | |
| ENST00000675368.1:c.235C>T | ENSP00000501757.1:p.Leu79= | |
| ENST00000675609.1:c.235C>T | ENSP00000501571.1:p.Leu79= | |
| ENST00000361726.6:c.235C>T | ENSP00000354900.6:p.Leu79= | |
| ENST00000374022.3:c.235C>T | ENSP00000363134.3:p.Leu79= | |
| ENST00000374029.1:c.235C>T | ENSP00000363141.1:p.Leu79= | |
| ENST00000447581.1:c.235C>T | ENSP00000407223.1:p.Leu79= | |
| NM_000166.5:c.235C>T | NP_000157.1:p.Leu79= | |
| NM_001097642.2:c.235C>T , LRG_245t1:c.235C>T | NP_001091111.1:p.Leu79= | |
| XM_011530907.1:c.235C>T | XP_011529209.1:p.Leu79= | |
| XM_011530907.2:c.235C>T | XP_011529209.1:p.Leu79= | |
| NM_000166.6:c.235C>T MANE Select | NP_000157.1:p.Leu79= | |
| NM_001097642.3:c.235C>T | NP_001091111.1:p.Leu79= |