Linked Data
ClinVar Variation Id:
14721
ClinVar RCV Id:
RCV000015841
dbSNP Id:
rs121912470
PubMed:
PMID:10395927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132489448A>G , CM000667.2:g.132489448A>G | GRCh38 |
| NC_000005.9:g.131825140A>G , CM000667.1:g.131825140A>G | GRCh37 |
| NC_000005.8:g.131853039A>G | NCBI36 |
| NG_011450.1:g.6326T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245414.9:c.31T>C MANE Select | ENSP00000245414.4:p.Trp11Arg | |
| ENST00000437654.6:c.31T>C | ENSP00000405655.2:p.Trp11Arg | |
| ENST00000613424.5:c.31T>C | ENSP00000480887.1:p.Trp11Arg | |
| ENST00000638452.2:c.-169+39759A>G | ENSP00000492349.2:n.-169+39759A>G | |
| ENST00000638504.1:n.206+69508A>G | ||
| ENST00000638568.2:c.-311+39759A>G | ENSP00000491158.2:n.-311+39759A>G | |
| ENST00000639899.1:n.289+39759A>G | ||
| ENST00000640655.2:c.-169+2788A>G | ENSP00000491596.2:n.-169+2788A>G | |
| ENST00000679440.1:c.31T>C | ENSP00000506401.1:p.Trp11Arg | |
| ENST00000679499.1:c.31T>C | ENSP00000505066.1:p.Trp11Arg | |
| ENST00000679921.1:c.-66+1097T>C | ENSP00000505766.1:n.-66+1097T>C | |
| ENST00000680139.1:c.31T>C | ENSP00000506148.1:p.Trp11Arg | |
| ENST00000680352.1:c.-7+1097T>C | ENSP00000506176.1:n.-7+1097T>C | |
| ENST00000680796.1:c.31T>C | ENSP00000506572.1:p.Trp11Arg | |
| ENST00000680903.1:c.31T>C | ENSP00000505720.1:p.Trp11Arg | |
| ENST00000681584.1:c.31T>C | ENSP00000505448.1:p.Trp11Arg | |
| ENST00000245414.8:c.31T>C | ENSP00000245414.4:p.Trp11Arg | |
| ENST00000405885.6:c.31T>C | ENSP00000384406.1:p.Trp11Arg | |
| ENST00000437654.5:c.31T>C | ENSP00000405655.1:p.Trp11Arg | |
| ENST00000439555.2:c.31T>C | ENSP00000392455.1:p.Trp11Arg | |
| ENST00000458069.5:c.31T>C | ENSP00000396318.1:p.Trp11Arg | |
| ENST00000459982.5:n.257T>C | ||
| ENST00000463784.5:n.223+1097T>C | ||
| ENST00000476613.1:c.31T>C | ENSP00000473661.1:p.Trp11Arg | |
| ENST00000493208.1:n.246T>C | ||
| ENST00000613424.4:c.31T>C | ENSP00000480887.1:p.Trp11Arg | |
| NM_002198.2:c.31T>C | NP_002189.1:p.Trp11Arg | |
| XM_011543378.1:c.31T>C | XP_011541680.1:p.Trp11Arg | |
| XM_011543379.1:c.-66+1097T>C | XP_011541681.1:n.-66+1097T>C | |
| XR_427711.2:n.265T>C | ||
| NM_001354924.1:c.31T>C | NP_001341853.1:p.Trp11Arg | |
| NM_001354925.1:c.31T>C | NP_001341854.1:p.Trp11Arg | |
| NR_149068.1:n.265T>C | ||
| NR_149069.1:n.265T>C | ||
| XM_011543379.2:c.-66+1097T>C | XP_011541681.1:n.-66+1097T>C | |
| NM_002198.3:c.31T>C MANE Select | NP_002189.1:p.Trp11Arg | |
| NR_149069.2:n.265T>C |