Linked Data
ClinVar Variation Id:
1985991
ClinVar RCV Id:
RCV002785852
dbSNP Id:
rs1035439925
gnomAD v4:
4-55411598-G-A
MyVariant Identifiers:
chr4:g.55411598G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55411598G>A , CM000666.2:g.55411598G>A | GRCh38 |
| NC_000004.11:g.56277765G>A , CM000666.1:g.56277765G>A | GRCh37 |
| NC_000004.10:g.55972522G>A | NCBI36 |
| NG_032881.1:g.20686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.208-16G>A MANE Select | ENSP00000370736.5:n.208-16G>A | |
| ENST00000381334.9:c.208-16G>A | ENSP00000370736.5:n.208-16G>A | |
| ENST00000502797.1:n.97-16G>A | ||
| ENST00000506198.5:c.208-12940G>A | ENSP00000425449.1:n.208-12940G>A | |
| ENST00000508404.5:c.*80-16G>A | ENSP00000422639.1:n.*80-16G>A | |
| ENST00000511710.1:n.332-16G>A | ||
| NM_018475.4:c.208-16G>A | NP_060945.2:n.208-16G>A | |
| NR_073070.1:n.588-16G>A | ||
| XM_011534394.1:c.208-16G>A | XP_011532696.1:n.208-16G>A | |
| XM_011534394.3:c.208-16G>A | XP_011532696.1:n.208-16G>A | |
| XM_017008412.1:c.19-16G>A | XP_016863901.1:n.19-16G>A | |
| XR_001741287.2:n.745-16G>A | ||
| NM_018475.5:c.208-16G>A MANE Select | NP_060945.2:n.208-16G>A | |
| NR_073070.2:n.544-16G>A |