Linked Data
ClinVar Variation Id:
197128
ClinVar RCV Id:
RCV000178069
dbSNP Id:
rs794727621
gnomAD v4:
X-19351300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19351300T>C , CM000685.2:g.19351300T>C | GRCh38 |
| NC_000023.10:g.19369418T>C , CM000685.1:g.19369418T>C | GRCh37 |
| NC_000023.9:g.19279339T>C | NCBI36 |
| NG_016781.1:g.12408T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.332T>C | ENSP00000348062.6:p.Leu111Pro | |
| ENST00000379805.4:c.311T>C | ENSP00000369133.3:p.Leu104Pro | |
| ENST00000417819.6:c.395T>C | ENSP00000404616.2:p.Leu132Pro | |
| ENST00000423505.6:c.425T>C | ENSP00000406473.2:p.Leu142Pro | |
| ENST00000696704.1:c.311T>C | ENSP00000512823.1:p.Leu104Pro | |
| ENST00000696705.1:c.311T>C | ENSP00000512824.1:p.Leu104Pro | |
| ENST00000422285.7:c.311T>C MANE Select | ENSP00000394382.2:p.Leu104Pro | |
| ENST00000355808.9:c.332T>C | ENSP00000348062.5:p.Leu111Pro | |
| ENST00000379805.3:c.311T>C | ENSP00000369133.3:p.Leu104Pro | |
| ENST00000379806.9:c.425T>C | ENSP00000369134.5:p.Leu142Pro | |
| ENST00000422285.6:c.311T>C | ENSP00000394382.2:p.Leu104Pro | |
| ENST00000423505.5:c.425T>C | ENSP00000406473.1:p.Leu142Pro | |
| ENST00000492364.1:n.413T>C | ||
| ENST00000540249.5:c.311T>C | ENSP00000440761.1:p.Leu104Pro | |
| ENST00000545074.5:c.332T>C | ENSP00000438550.1:p.Leu111Pro | |
| NM_000284.3:c.311T>C | NP_000275.1:p.Leu104Pro | |
| NM_001173454.1:c.425T>C | NP_001166925.1:p.Leu142Pro | |
| NM_001173455.1:c.332T>C | NP_001166926.1:p.Leu111Pro | |
| NM_001173456.1:c.311T>C | NP_001166927.1:p.Leu104Pro | |
| XM_011545531.1:c.446T>C | XP_011543833.1:p.Leu149Pro | |
| XM_011545532.1:c.446T>C | XP_011543834.1:p.Leu149Pro | |
| XM_017029574.2:c.425T>C | XP_016885063.1:p.Leu142Pro | |
| NM_000284.4:c.311T>C MANE Select | NP_000275.1:p.Leu104Pro | |
| NM_001173454.2:c.425T>C | NP_001166925.1:p.Leu142Pro | |
| NM_001173455.2:c.332T>C | NP_001166926.1:p.Leu111Pro | |
| NM_001173456.2:c.311T>C | NP_001166927.1:p.Leu104Pro |