Linked Data
dbSNP Id:
rs745365527
ExAC:
19:12760003 T / G
gnomAD v2:
19-12760003-T-G
gnomAD v4:
19-12649189-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12649189T>G , CM000681.2:g.12649189T>G | GRCh38 |
| NC_000019.9:g.12760003T>G , CM000681.1:g.12760003T>G | GRCh37 |
| NC_000019.8:g.12621003T>G | NCBI36 |
| NG_008318.1:g.22589A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2383A>C MANE Select | ENSP00000395473.2:p.Thr795Pro | |
| ENST00000221363.8:c.2380A>C | ENSP00000221363.4:p.Thr794Pro | |
| ENST00000456935.6:c.2383A>C | ENSP00000395473.2:p.Thr795Pro | |
| ENST00000466794.5:n.2973A>C | ||
| NM_000528.3:c.2383A>C | NP_000519.2:p.Thr795Pro | |
| NM_001173498.1:c.2380A>C | NP_001166969.1:p.Thr794Pro | |
| XM_005259913.1:c.2386A>C | XP_005259970.1:p.Thr796Pro | |
| XM_011528017.1:c.1282A>C | XP_011526319.1:p.Thr428Pro | |
| XM_005259913.2:c.2386A>C | XP_005259970.1:p.Thr796Pro | |
| XM_024451518.1:c.1282A>C | XP_024307286.1:p.Thr428Pro | |
| NM_000528.4:c.2383A>C MANE Select | NP_000519.2:p.Thr795Pro | |
| NM_001173498.2:c.2380A>C | NP_001166969.1:p.Thr794Pro |