Linked Data
dbSNP Id:
rs45463901
gnomAD v2:
22-28146782-C-T
gnomAD v3:
22-27750794-C-T
gnomAD v4:
22-27750794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750794C>T , CM000684.2:g.27750794C>T | GRCh38 |
| NC_000022.10:g.28146782C>T , CM000684.1:g.28146782C>T | GRCh37 |
| NC_000022.9:g.26476782C>T | NCBI36 |
| NG_023258.1:g.55705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.609G>A | ||
| ENST00000302326.5:c.*121G>A MANE Select | ENSP00000304956.4:n.*121G>A | |
| ENST00000302326.4:c.*121G>A | ENSP00000304956.4:n.*121G>A | |
| ENST00000424656.1:c.437G>A | ||
| ENST00000497225.1:n.440G>A | ||
| NM_002430.2:c.*121G>A | NP_002421.3:n.*121G>A | |
| NM_002430.3:c.*121G>A MANE Select | NP_002421.3:n.*121G>A |