Linked Data
ClinVar Variation Id:
796828
ClinVar RCV Id:
RCV001429703
dbSNP Id:
rs1579044062
gnomAD v4:
4-177438832-C-A
MyVariant Identifiers:
chr4:g.178359986C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438832C>A , CM000666.2:g.177438832C>A | GRCh38 |
| NC_000004.11:g.178359986C>A , CM000666.1:g.178359986C>A | GRCh37 |
| NC_000004.10:g.178596980C>A | NCBI36 |
| NG_011845.2:g.8672G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.420G>T MANE Select | ENSP00000264595.2:p.Gly140= | |
| ENST00000264595.6:c.420G>T | ENSP00000264595.2:p.Gly140= | |
| ENST00000502310.5:c.75G>T | ENSP00000423798.1:p.Gly25= | |
| ENST00000506853.5:n.454G>T | ||
| ENST00000510635.1:c.116G>T | ||
| ENST00000510955.5:n.341G>T | ||
| NM_000027.3:c.420G>T | NP_000018.2:p.Gly140= | |
| NM_001171988.1:c.420G>T | NP_001165459.1:p.Gly140= | |
| NR_033655.1:n.548G>T | ||
| XM_006714123.2:c.420G>T | XP_006714186.1:p.Gly140= | |
| XR_001741155.2:n.514G>T | ||
| NM_000027.4:c.420G>T MANE Select | NP_000018.2:p.Gly140= | |
| NM_001171988.2:c.420G>T | NP_001165459.1:p.Gly140= | |
| NR_033655.2:n.482G>T |