Linked Data
dbSNP Id:
rs1754455121
gnomAD v3:
5-132484074-C-T
gnomAD v4:
5-132484074-C-T
MyVariant Identifiers:
chr5:g.131819766C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132484074C>T , CM000667.2:g.132484074C>T | GRCh38 |
| NC_000005.9:g.131819766C>T , CM000667.1:g.131819766C>T | GRCh37 |
| NC_000005.8:g.131847665C>T | NCBI36 |
| NG_011450.1:g.11700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245414.9:c.855G>A MANE Select | ENSP00000245414.4:p.Gly285= | |
| ENST00000613424.5:c.*76G>A | ENSP00000480887.1:n.*76G>A | |
| ENST00000638452.2:c.-169+34385C>T | ENSP00000492349.2:n.-169+34385C>T | |
| ENST00000638504.1:n.206+64134C>T | ||
| ENST00000638568.2:c.-311+34385C>T | ENSP00000491158.2:n.-311+34385C>T | |
| ENST00000639899.1:n.289+34385C>T | ||
| ENST00000640655.2:c.-637-2118C>T | ENSP00000491596.2:n.-637-2118C>T | |
| ENST00000679743.1:c.476G>A | ENSP00000505257.1:n.476G>A | |
| ENST00000679786.1:n.130+2483G>A | ||
| ENST00000679860.1:c.143G>A | ||
| ENST00000679921.1:c.292+2483G>A | ENSP00000505766.1:n.292+2483G>A | |
| ENST00000679945.1:n.130+2483G>A | ||
| ENST00000679964.1:n.50+1593G>A | ||
| ENST00000680139.1:c.669G>A | ENSP00000506148.1:p.Gly223= | |
| ENST00000680380.1:n.136+288G>A | ||
| ENST00000680562.1:c.303G>A | ENSP00000505853.1:p.Gly101= | |
| ENST00000680594.1:n.136+288G>A | ||
| ENST00000680903.1:c.732G>A | ENSP00000505720.1:p.Gly244= | |
| ENST00000681049.1:n.50+1593G>A | ||
| ENST00000681240.1:c.105G>A | ENSP00000506034.1:p.Trp35Ter | |
| ENST00000681336.1:c.137-35G>A | ENSP00000505242.1:n.137-35G>A | |
| ENST00000681462.1:c.692G>A | ||
| ENST00000681595.1:c.416G>A | ENSP00000506023.1:n.416G>A | |
| ENST00000681634.1:n.136+288G>A | ||
| ENST00000681694.1:c.167G>A | ENSP00000506552.1:p.Gly56Glu | |
| ENST00000681715.1:c.353G>A | ENSP00000506545.1:n.353G>A | |
| ENST00000245414.8:c.855G>A | ENSP00000245414.4:p.Gly285= | |
| ENST00000405885.6:c.855G>A | ENSP00000384406.1:p.Gly285= | |
| ENST00000472045.1:n.4164G>A | ||
| ENST00000613424.4:c.*76G>A | ENSP00000480887.1:n.*76G>A | |
| NM_002198.2:c.855G>A | NP_002189.1:p.Gly285= | |
| XM_011543378.1:c.732G>A | XP_011541680.1:p.Gly244= | |
| XM_011543379.1:c.603G>A | XP_011541681.1:p.Gly201= | |
| XR_427711.2:n.916G>A | ||
| NM_001354924.1:c.732G>A | NP_001341853.1:p.Gly244= | |
| NM_001354925.1:c.669G>A | NP_001341854.1:p.Gly223= | |
| NR_149068.1:n.916G>A | ||
| XM_011543379.2:c.603G>A | XP_011541681.1:p.Gly201= | |
| NM_002198.3:c.855G>A MANE Select | NP_002189.1:p.Gly285= |