Linked Data
dbSNP Id:
rs2228603
ExAC:
19:19329924 C / A
gnomAD v2:
19-19329924-C-A
gnomAD v3:
19-19219115-C-A
gnomAD v4:
19-19219115-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19219115C>A , CM000681.2:g.19219115C>A | GRCh38 |
| NC_000019.9:g.19329924C>A , CM000681.1:g.19329924C>A | GRCh37 |
| NC_000019.8:g.19190924C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252575.11:c.274C>A MANE Select | ENSP00000252575.4:p.Pro92Thr | |
| ENST00000252575.10:c.274C>A | ENSP00000252575.4:p.Pro92Thr | |
| NM_004386.2:c.274C>A | NP_004377.2:p.Pro92Thr | |
| XM_005259747.1:c.274C>A | XP_005259804.1:p.Pro92Thr | |
| NM_004386.3:c.274C>A MANE Select | NP_004377.2:p.Pro92Thr |