Linked Data
ClinVar Variation Id:
92309
dbSNP Id:
rs373865451
ExAC:
4:178358643 C / T
gnomAD v2:
4-178358643-C-T
gnomAD v3:
4-177437489-C-T
gnomAD v4:
4-177437489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177437489C>T , CM000666.2:g.177437489C>T | GRCh38 |
| NC_000004.11:g.178358643C>T , CM000666.1:g.178358643C>T | GRCh37 |
| NC_000004.10:g.178595637C>T | NCBI36 |
| NG_011845.2:g.10015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.538G>A MANE Select | ENSP00000264595.2:p.Gly180Arg | |
| ENST00000264595.6:c.538G>A | ENSP00000264595.2:p.Gly180Arg | |
| ENST00000502310.5:c.193G>A | ENSP00000423798.1:p.Gly65Arg | |
| ENST00000506853.5:n.572G>A | ||
| ENST00000510635.1:c.234G>A | ||
| ENST00000510955.5:n.459G>A | ||
| NM_000027.3:c.538G>A | NP_000018.2:p.Gly180Arg | |
| NM_001171988.1:c.538G>A | NP_001165459.1:p.Gly180Arg | |
| NR_033655.1:n.666G>A | ||
| XM_006714123.2:c.538G>A | XP_006714186.1:p.Gly180Arg | |
| XR_001741155.2:n.632G>A | ||
| NM_000027.4:c.538G>A MANE Select | NP_000018.2:p.Gly180Arg | |
| NM_001171988.2:c.538G>A | NP_001165459.1:p.Gly180Arg | |
| NR_033655.2:n.600G>A |