Linked Data
ClinVar Variation Id:
8169
ClinVar RCV Id:
RCV000008647
dbSNP Id:
rs267607194
ExAC:
16:75674156 A / T
gnomAD v2:
16-75674156-A-T
gnomAD v4:
16-75640258-A-T
PubMed:
PMID:20920668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75640258A>T , CM000678.2:g.75640258A>T | GRCh38 |
| NC_000016.9:g.75674156A>T , CM000678.1:g.75674156A>T | GRCh37 |
| NC_000016.8:g.74231657A>T | NCBI36 |
| NG_028025.1:g.12430T>A , LRG_366:g.12430T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302445.8:c.314T>A MANE Select | ENSP00000303043.3:p.Leu105His | |
| ENST00000302445.7:c.314T>A | ENSP00000303043.3:p.Leu105His | |
| ENST00000319410.9:c.398T>A | ENSP00000325448.5:p.Leu133His | |
| ENST00000562875.5:c.222+1306T>A | ENSP00000456185.1:n.222+1306T>A | |
| ENST00000564578.5:c.306+1306T>A | ENSP00000455818.1:n.306+1306T>A | |
| ENST00000565738.1:n.131T>A | ||
| ENST00000566249.5:c.190+1306T>A | ||
| ENST00000566560.5:n.428T>A | ||
| ENST00000568378.5:c.146+4025T>A | ENSP00000454512.1:n.146+4025T>A | |
| ENST00000568682.5:c.-155T>A | ENSP00000462057.1:n.-155T>A | |
| ENST00000570215.1:c.398T>A | ENSP00000458028.1:p.Leu133His | |
| NM_001130089.1:c.398T>A , LRG_366t1:c.398T>A | NP_001123561.1:p.Leu133His | |
| NM_005548.2:c.314T>A | NP_005539.1:p.Leu105His | |
| XM_017023217.1:c.-155T>A | XP_016878706.1:n.-155T>A | |
| NM_001130089.2:c.398T>A | NP_001123561.1:p.Leu133His | |
| NM_001378148.1:c.-155T>A | NP_001365077.1:n.-155T>A | |
| NM_005548.3:c.314T>A MANE Select | NP_005539.1:p.Leu105His |