Linked Data
ClinVar Variation Id:
1878345
ClinVar RCV Id:
RCV002510398
dbSNP Id:
rs1434051128
gnomAD v2:
5-90021387-G-T
gnomAD v4:
5-90725570-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90725570G>T , CM000667.2:g.90725570G>T | GRCh38 |
| NC_000005.9:g.90021387G>T , CM000667.1:g.90021387G>T | GRCh37 |
| NC_000005.8:g.90057143G>T | NCBI36 |
| NG_007083.1:g.171771G>T | |
| NG_007083.2:g.201227G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.10075G>T MANE Select | ENSP00000384582.2:p.Glu3359Ter | |
| ENST00000639431.1:c.265+49361G>T | ENSP00000491057.1:n.265+49361G>T | |
| ENST00000640374.1:n.3219G>T | ||
| ENST00000640464.1:n.494G>T | ||
| ENST00000405460.6:c.10075G>T | ENSP00000384582.2:p.Glu3359Ter | |
| ENST00000509621.1:c.2772G>T | ||
| NM_032119.3:c.10075G>T | NP_115495.3:p.Glu3359Ter | |
| NR_003149.1:n.10088G>T | ||
| XM_011543675.1:c.10072G>T | XP_011541977.1:p.Glu3358Ter | |
| XM_011543676.1:c.9994G>T | XP_011541978.1:p.Glu3332Ter | |
| XM_011543677.1:c.7378G>T | XP_011541979.1:p.Glu2460Ter | |
| XM_011543678.1:c.10075G>T | XP_011541980.1:p.Glu3359Ter | |
| XM_011543679.1:c.10075G>T | XP_011541981.1:p.Glu3359Ter | |
| XR_948560.1:n.272-9761C>A | ||
| NM_032119.4:c.10075G>T MANE Select | NP_115495.3:p.Glu3359Ter | |
| XM_017009963.2:c.10096G>T | XP_016865452.1:p.Glu3366Ter | |
| XM_017009964.2:c.10093G>T | XP_016865453.1:p.Glu3365Ter | |
| XM_017009965.1:c.10093G>T | XP_016865454.1:p.Glu3365Ter | |
| XM_017009966.2:c.10015G>T | XP_016865455.1:p.Glu3339Ter | |
| XM_017009967.1:c.10000G>T | XP_016865456.1:p.Glu3334Ter | |
| XM_017009968.2:c.10096G>T | XP_016865457.1:p.Glu3366Ter | |
| XM_017009969.2:c.10096G>T | XP_016865458.1:p.Glu3366Ter | |
| XM_017009970.2:c.10096G>T | XP_016865459.1:p.Glu3366Ter | |
| XM_017009971.2:c.10096G>T | XP_016865460.1:p.Glu3366Ter | |
| XM_017009972.1:c.3214G>T | XP_016865461.1:p.Glu1072Ter | |
| XM_017009973.1:c.3193G>T | XP_016865462.1:p.Glu1065Ter | |
| XM_017009974.2:c.10096G>T | XP_016865463.1:p.Glu3366Ter | |
| XR_001742802.1:n.2523-9761C>A | ||
| NR_003149.2:n.10091G>T |