Linked Data
dbSNP Id:
rs754307479
ExAC:
20:10637083 G / T
gnomAD v2:
20-10637083-G-T
gnomAD v4:
20-10656435-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656435G>T , CM000682.2:g.10656435G>T | GRCh38 |
| NC_000020.10:g.10637083G>T , CM000682.1:g.10637083G>T | GRCh37 |
| NC_000020.9:g.10585083G>T | NCBI36 |
| NG_007496.1:g.22612C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.718C>A MANE Select | ENSP00000254958.4:p.Pro240Thr | |
| ENST00000254958.9:c.718C>A | ENSP00000254958.4:p.Pro240Thr | |
| ENST00000423891.6:n.584C>A | ||
| NM_000214.2:c.718C>A | NP_000205.1:p.Pro240Thr | |
| NM_000214.3:c.718C>A MANE Select | NP_000205.1:p.Pro240Thr |