Linked Data
ClinVar Variation Id:
2328325
ClinVar RCV Id:
RCV004171998
dbSNP Id:
rs767525364
ExAC:
19:17394247 T / C
gnomAD v2:
19-17394247-T-C
gnomAD v4:
19-17283438-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283438T>C , CM000681.2:g.17283438T>C | GRCh38 |
| NC_000019.9:g.17394247T>C , CM000681.1:g.17394247T>C | GRCh37 |
| NC_000019.8:g.17255247T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.674T>C MANE Select | ENSP00000384008.3:p.Val225Ala | |
| ENST00000404261.9:c.674T>C | ENSP00000384753.6:p.Val225Ala | |
| ENST00000594072.6:c.674T>C | ENSP00000468845.4:p.Val225Ala | |
| ENST00000651416.1:n.891T>C | ||
| ENST00000652132.1:c.641T>C | ENSP00000498416.1:p.Val214Ala | |
| ENST00000394458.7:c.836T>C | ENSP00000377971.4:p.Val279Ala | |
| ENST00000404085.5:c.*573T>C | ENSP00000384008.2:n.*573T>C | |
| ENST00000404261.8:c.836T>C | ENSP00000384753.5:p.Val279Ala | |
| ENST00000594072.5:c.836T>C | ENSP00000468845.3:p.Val279Ala | |
| ENST00000596626.1:n.787T>C | ||
| ENST00000598347.2:c.676T>C | ||
| NM_001278443.1:c.803T>C | NP_001265372.1:p.Val268Ala | |
| NM_001278444.1:c.836T>C | NP_001265373.1:p.Val279Ala | |
| NM_001278445.1:c.740T>C | NP_001265374.1:p.Val247Ala | |
| NM_152363.5:c.836T>C | NP_689576.5:p.Val279Ala | |
| NR_103530.1:n.950T>C | ||
| NM_001278443.2:c.641T>C | NP_001265372.2:p.Val214Ala | |
| NM_001278444.2:c.674T>C | NP_001265373.2:p.Val225Ala | |
| NM_001278445.2:c.632T>C | NP_001265374.2:p.Val211Ala | |
| NM_152363.6:c.674T>C MANE Select | NP_689576.6:p.Val225Ala | |
| NR_103530.2:n.694T>C |