Linked Data
ClinVar Variation Id:
2085973
ClinVar RCV Id:
RCV003005385
dbSNP Id:
rs191035273
gnomAD v2:
5-54529019-C-A
gnomAD v4:
5-55233191-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233191C>A , CM000667.2:g.55233191C>A | GRCh38 |
| NC_000005.9:g.54529019C>A , CM000667.1:g.54529019C>A | GRCh37 |
| NC_000005.8:g.54564776C>A | NCBI36 |
| NG_034201.1:g.5527G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.333G>T MANE Select | ENSP00000282572.4:p.Ala111= | |
| ENST00000282572.4:c.333G>T | ENSP00000282572.4:p.Ala111= | |
| ENST00000501463.2:c.333G>T | ENSP00000422485.1:p.Ala111= | |
| NM_021147.4:c.333G>T | NP_066970.3:p.Ala111= | |
| NR_125346.1:n.527G>T | ||
| NR_125347.1:n.527G>T | ||
| NM_021147.5:c.333G>T MANE Select | NP_066970.3:p.Ala111= | |
| NR_125346.2:n.418G>T | ||
| NR_125347.2:n.418G>T |