Linked Data
ClinVar Variation Id:
1121835
ClinVar RCV Id:
RCV001452256
dbSNP Id:
rs2111018169
MyVariant Identifiers:
chr4:g.178359974T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438820T>C , CM000666.2:g.177438820T>C | GRCh38 |
| NC_000004.11:g.178359974T>C , CM000666.1:g.178359974T>C | GRCh37 |
| NC_000004.10:g.178596968T>C | NCBI36 |
| NG_011845.2:g.8684A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.432A>G MANE Select | ENSP00000264595.2:p.Glu144= | |
| ENST00000264595.6:c.432A>G | ENSP00000264595.2:p.Glu144= | |
| ENST00000502310.5:c.87A>G | ENSP00000423798.1:p.Glu29= | |
| ENST00000506853.5:n.466A>G | ||
| ENST00000510635.1:c.128A>G | ||
| ENST00000510955.5:n.353A>G | ||
| NM_000027.3:c.432A>G | NP_000018.2:p.Glu144= | |
| NM_001171988.1:c.432A>G | NP_001165459.1:p.Glu144= | |
| NR_033655.1:n.560A>G | ||
| XM_006714123.2:c.432A>G | XP_006714186.1:p.Glu144= | |
| XR_001741155.2:n.526A>G | ||
| NM_000027.4:c.432A>G MANE Select | NP_000018.2:p.Glu144= | |
| NM_001171988.2:c.432A>G | NP_001165459.1:p.Glu144= | |
| NR_033655.2:n.494A>G |