Linked Data
ClinVar Variation Id:
134145
dbSNP Id:
rs145315496
ExAC:
16:14015891 T / C
gnomAD v2:
16-14015891-T-C
gnomAD v3:
16-13922034-T-C
gnomAD v4:
16-13922034-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13922034T>C , CM000678.2:g.13922034T>C | GRCh38 |
| NC_000016.9:g.14015891T>C , CM000678.1:g.14015891T>C | GRCh37 |
| NC_000016.8:g.13923392T>C | NCBI36 |
| NG_011442.1:g.6878T>C , LRG_463:g.6878T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.199T>C | ||
| ENST00000682568.1:n.141T>C | ||
| ENST00000682617.1:c.211T>C | ENSP00000507912.1:p.Tyr71His | |
| ENST00000682826.1:c.211T>C | ENSP00000507274.1:p.Tyr71His | |
| ENST00000682909.1:n.220T>C | ||
| ENST00000683277.1:n.1856T>C | ||
| ENST00000683407.1:n.219T>C | ||
| ENST00000683962.1:c.211T>C | ENSP00000506854.1:p.Tyr71His | |
| ENST00000311895.8:c.211T>C MANE Select | ENSP00000310520.7:p.Tyr71His | |
| ENST00000311895.7:c.211T>C | ENSP00000310520.7:p.Tyr71His | |
| ENST00000575156.5:c.211T>C | ENSP00000459933.1:p.Tyr71His | |
| ENST00000576348.1:n.186T>C | ||
| NM_005236.2:c.211T>C , LRG_463t1:c.211T>C | NP_005227.1:p.Tyr71His | |
| XM_011522424.1:c.211T>C | XP_011520726.1:p.Tyr71His | |
| XR_932805.1:n.232T>C | ||
| XR_933098.1:n.82+4491A>G | ||
| XR_933099.1:n.82+4491A>G | ||
| XR_933100.1:n.82+4491A>G | ||
| XM_011522424.3:c.211T>C | XP_011520726.1:p.Tyr71His | |
| XM_017023043.2:c.-727T>C | XP_016878532.1:n.-727T>C | |
| NM_005236.3:c.211T>C MANE Select | NP_005227.1:p.Tyr71His |