Linked Data
ClinVar Variation Id:
255541
dbSNP Id:
rs5919
ExAC:
17:45364540 T / C
gnomAD v2:
17-45364540-T-C
gnomAD v3:
17-47287174-T-C
gnomAD v4:
17-47287174-T-C
ERepo:
CA8623073/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47287174T>C , CM000679.2:g.47287174T>C | GRCh38 |
| NC_000017.10:g.45364540T>C , CM000679.1:g.45364540T>C | GRCh37 |
| NC_000017.9:g.42719539T>C | NCBI36 |
| NG_008332.2:g.38333T>C , LRG_481:g.38333T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.882T>C | ENSP00000513002.1:p.Pro294= | |
| ENST00000559488.7:c.882T>C MANE Select | ENSP00000452786.2:p.Pro294= | |
| ENST00000559488.5:c.882T>C | ENSP00000452786.1:p.Pro294= | |
| ENST00000560629.1:c.847T>C | ||
| ENST00000571680.1:c.882T>C | ENSP00000461626.1:p.Pro294= | |
| NM_000212.2:c.882T>C , LRG_481t1:c.882T>C | NP_000203.2:p.Pro294= | |
| NM_000212.3:c.882T>C MANE Select | NP_000203.2:p.Pro294= |