Linked Data
ClinVar Variation Id:
264428
dbSNP Id:
rs550387143
ExAC:
5:127873053 C / T
gnomAD v2:
5-127873053-C-T
gnomAD v3:
5-128537360-C-T
gnomAD v4:
5-128537360-C-T
PubMed:
PMID:17345643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128537360C>T , CM000667.2:g.128537360C>T | GRCh38 |
| NC_000005.9:g.127873053C>T , CM000667.1:g.127873053C>T | GRCh37 |
| NC_000005.8:g.127900952C>T | NCBI36 |
| NG_008750.1:g.5683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.244G>A | ENSP00000424571.2:p.Val82Met | |
| ENST00000262464.9:c.244G>A MANE Select | ENSP00000262464.4:p.Val82Met | |
| ENST00000262464.8:c.244G>A | ENSP00000262464.4:p.Val82Met | |
| ENST00000502468.5:c.244G>A | ENSP00000424753.1:p.Val82Met | |
| ENST00000508053.5:c.244G>A | ENSP00000424571.1:p.Val82Met | |
| ENST00000508989.5:c.244G>A | ENSP00000425596.1:p.Val82Met | |
| ENST00000514742.1:n.864G>A | ||
| ENST00000619499.4:c.244G>A | ENSP00000482132.1:p.Val82Met | |
| ENST00000620257.1:c.244G>A | ENSP00000479157.1:p.Val82Met | |
| NM_001999.3:c.244G>A | NP_001990.2:p.Val82Met | |
| XM_017009228.2:c.244G>A | XP_016864717.1:p.Val82Met | |
| NM_001999.4:c.244G>A MANE Select | NP_001990.2:p.Val82Met |