Linked Data
dbSNP Id:
rs753955549
ExAC:
4:100341821 C / T
gnomAD v2:
4-100341821-C-T
gnomAD v4:
4-99420664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420664C>T , CM000666.2:g.99420664C>T | GRCh38 |
| NC_000004.11:g.100341821C>T , CM000666.1:g.100341821C>T | GRCh37 |
| NC_000004.10:g.100560844C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.694G>A MANE Select | ENSP00000414254.2:p.Ala232Thr | |
| ENST00000209665.8:c.730G>A | ENSP00000209665.4:p.Ala244Thr | |
| ENST00000437033.6:c.694G>A | ENSP00000414254.2:p.Ala232Thr | |
| ENST00000476959.5:c.754G>A | ENSP00000420269.1:p.Ala252Thr | |
| ENST00000482593.5:c.523G>A | ENSP00000420613.1:p.Ala175Thr | |
| NM_000673.4:c.730G>A | NP_000664.2:p.Ala244Thr | |
| NM_001166504.1:c.754G>A | NP_001159976.1:p.Ala252Thr | |
| NM_000673.7:c.694G>A MANE Select | NP_000664.3:p.Ala232Thr | |
| NM_001166504.2:c.754G>A | NP_001159976.1:p.Ala252Thr |