Linked Data
dbSNP Id:
rs1560952682
gnomAD v2:
4-178363546-G-A
gnomAD v4:
4-177442392-G-A
MyVariant Identifiers:
chr4:g.178363546_178363549delinsAACC (hg19)
chr4:g.177442392_177442395delinsAACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442392G>A , CM000666.2:g.177442392G>A | GRCh38 |
| NC_000004.11:g.178363546G>A , CM000666.1:g.178363546G>A | GRCh37 |
| NC_000004.10:g.178600540G>A | NCBI36 |
| NG_011845.2:g.5112C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.-17C>T MANE Select | ENSP00000264595.2:n.-17C>T | |
| ENST00000264595.6:c.-17C>T | ENSP00000264595.2:n.-17C>T | |
| ENST00000506853.5:n.18C>T | ||
| ENST00000510955.5:n.18C>T | ||
| ENST00000511231.1:n.18C>T | ||
| NM_000027.3:c.-17C>T | NP_000018.2:n.-17C>T | |
| NM_001171988.1:c.-17C>T | NP_001165459.1:n.-17C>T | |
| NR_033655.1:n.112C>T | ||
| XM_006714123.2:c.-17C>T | XP_006714186.1:n.-17C>T | |
| XR_001741155.2:n.78C>T | ||
| NM_000027.4:c.-17C>T MANE Select | NP_000018.2:n.-17C>T | |
| NM_001171988.2:c.-17C>T | NP_001165459.1:n.-17C>T | |
| NR_033655.2:n.46C>T |