Linked Data
dbSNP Id:
rs758882194
ExAC:
1:11334048 C / A
gnomAD v2:
1-11334048-C-A
gnomAD v4:
1-11273991-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273991C>A , CM000663.2:g.11273991C>A | GRCh38 |
| NC_000001.10:g.11334048C>A , CM000663.1:g.11334048C>A | GRCh37 |
| NC_000001.9:g.11256635C>A | NCBI36 |
| NG_009443.1:g.5794C>A | |
| NG_009443.2:g.5794C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.460C>A MANE Select | ENSP00000366006.5:p.Pro154Thr | |
| ENST00000376804.2:c.460C>A | ENSP00000366000.1:p.Pro154Thr | |
| ENST00000376810.5:c.460C>A | ENSP00000366006.5:p.Pro154Thr | |
| ENST00000483738.1:c.58C>A | ENSP00000473453.1:p.Pro20Thr | |
| ENST00000486588.6:c.103C>A | ENSP00000473612.1:p.Pro35Thr | |
| NM_013319.2:c.460C>A | NP_037451.1:p.Pro154Thr | |
| XM_006710590.2:c.460C>A | XP_006710653.1:p.Pro154Thr | |
| XM_011541304.1:c.460C>A | XP_011539606.1:p.Pro154Thr | |
| XR_946616.1:n.794C>A | ||
| NM_001330349.1:c.460C>A | NP_001317278.1:p.Pro154Thr | |
| NM_001330350.1:c.460C>A | NP_001317279.1:p.Pro154Thr | |
| XR_946616.3:n.794C>A | ||
| NM_001330349.2:c.460C>A | NP_001317278.1:p.Pro154Thr | |
| NM_001330350.2:c.460C>A | NP_001317279.1:p.Pro154Thr | |
| NM_013319.3:c.460C>A MANE Select | NP_037451.1:p.Pro154Thr |