Linked Data
ClinVar Variation Id:
1161840
ClinVar RCV Id:
RCV001506496
dbSNP Id:
rs2111019818
gnomAD v4:
4-177439622-C-T
MyVariant Identifiers:
chr4:g.178360776C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439622C>T , CM000666.2:g.177439622C>T | GRCh38 |
| NC_000004.11:g.178360776C>T , CM000666.1:g.178360776C>T | GRCh37 |
| NC_000004.10:g.178597770C>T | NCBI36 |
| NG_011845.2:g.7882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.348G>A MANE Select | ENSP00000264595.2:p.Arg116= | |
| ENST00000264595.6:c.348G>A | ENSP00000264595.2:p.Arg116= | |
| ENST00000502310.5:c.3G>A | ENSP00000423798.1:p.Arg1= | |
| ENST00000506853.5:n.382G>A | ||
| ENST00000510635.1:c.44G>A | ||
| ENST00000510955.5:n.315+651G>A | ||
| NM_000027.3:c.348G>A | NP_000018.2:p.Arg116= | |
| NM_001171988.1:c.348G>A | NP_001165459.1:p.Arg116= | |
| NR_033655.1:n.476G>A | ||
| XM_006714123.2:c.348G>A | XP_006714186.1:p.Arg116= | |
| XR_001741155.2:n.442G>A | ||
| NM_000027.4:c.348G>A MANE Select | NP_000018.2:p.Arg116= | |
| NM_001171988.2:c.348G>A | NP_001165459.1:p.Arg116= | |
| NR_033655.2:n.410G>A |