Linked Data
ClinVar Variation Id:
1137
ClinVar RCV Id:
RCV000001196
dbSNP Id:
rs118203961
PubMed:
PMID:17273977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74196145G>A , CM000677.2:g.74196145G>A | GRCh38 |
| NC_000015.9:g.74488486G>A , CM000677.1:g.74488486G>A | GRCh37 |
| NC_000015.8:g.72275539G>A | NCBI36 |
| NG_009207.1:g.17886C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395105.9:c.269C>T MANE Select | ENSP00000378537.4:p.Pro90Leu | |
| ENST00000323940.9:c.269C>T | ENSP00000326085.5:p.Pro90Leu | |
| ENST00000395105.8:c.269C>T | ENSP00000378537.4:p.Pro90Leu | |
| ENST00000416286.7:c.269C>T | ENSP00000400403.3:p.Pro90Leu | |
| ENST00000423167.6:c.267-25C>T | ENSP00000413012.2:n.267-25C>T | |
| ENST00000432245.6:c.269C>T | ENSP00000407176.2:p.Pro90Leu | |
| ENST00000449139.6:c.269C>T | ENSP00000410221.2:p.Pro90Leu | |
| ENST00000535552.5:c.380C>T | ENSP00000440238.1:p.Pro127Leu | |
| ENST00000545137.5:n.145C>T | ||
| ENST00000563965.5:c.386C>T | ENSP00000456609.1:p.Pro129Leu | |
| ENST00000569936.5:c.269C>T | ENSP00000461799.1:p.Pro90Leu | |
| ENST00000573214.5:n.349C>T | ||
| ENST00000573456.5:n.553C>T | ||
| ENST00000573724.1:n.252-470C>T | ||
| ENST00000574278.5:c.314C>T | ENSP00000458827.1:p.Pro105Leu | |
| ENST00000574439.5:n.541C>T | ||
| ENST00000574570.1:n.528C>T | ||
| ENST00000616000.4:c.269C>T | ENSP00000479112.1:p.Pro90Leu | |
| NM_001142617.1:c.269C>T | NP_001136089.1:p.Pro90Leu | |
| NM_001142618.1:c.269C>T | NP_001136090.1:p.Pro90Leu | |
| NM_001142619.1:c.267-25C>T | NP_001136091.1:n.267-25C>T | |
| NM_001142620.1:c.269C>T | NP_001136092.1:p.Pro90Leu | |
| NM_001199040.1:c.380C>T | NP_001185969.1:p.Pro127Leu | |
| NM_001199041.1:c.314C>T | NP_001185970.1:p.Pro105Leu | |
| NM_001199042.1:c.386C>T | NP_001185971.1:p.Pro129Leu | |
| NM_022369.3:c.269C>T | NP_071764.3:p.Pro90Leu | |
| XM_011521883.1:c.269C>T | XP_011520185.1:p.Pro90Leu | |
| XM_011521884.1:c.80C>T | XP_011520186.1:p.Pro27Leu | |
| XM_011521885.1:c.386C>T | XP_011520187.1:p.Pro129Leu | |
| XR_931877.1:n.392C>T | ||
| XM_011521885.2:c.386C>T | XP_011520187.1:p.Pro129Leu | |
| XM_017022478.1:c.317C>T | XP_016877967.1:p.Pro106Leu | |
| XM_017022479.1:c.269C>T | XP_016877968.1:p.Pro90Leu | |
| XM_017022480.1:c.80C>T | XP_016877969.1:p.Pro27Leu | |
| XR_931877.2:n.392C>T | ||
| NM_022369.4:c.269C>T MANE Select | NP_071764.3:p.Pro90Leu | |
| NM_001142617.2:c.269C>T | NP_001136089.1:p.Pro90Leu | |
| NM_001142619.2:c.267-25C>T | NP_001136091.1:n.267-25C>T | |
| NM_001199042.2:c.386C>T | NP_001185971.1:p.Pro129Leu | |
| NM_001142618.2:c.269C>T | NP_001136090.1:p.Pro90Leu | |
| NM_001142620.2:c.269C>T | NP_001136092.1:p.Pro90Leu | |
| NM_001199040.2:c.380C>T | NP_001185969.1:p.Pro127Leu | |
| NM_001199041.2:c.314C>T | NP_001185970.1:p.Pro105Leu |