Linked Data
ClinVar Variation Id:
1386097
ClinVar RCV Id:
RCV001889160
dbSNP Id:
rs2133336705
gnomAD v4:
9-136504889-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504889T>C , CM000671.2:g.136504889T>C | GRCh38 |
| NC_000009.11:g.139399341T>C , CM000671.1:g.139399341T>C | GRCh37 |
| NC_000009.10:g.138519162T>C | NCBI36 |
| NG_007458.1:g.45898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2609A>G | ||
| ENST00000651671.1:c.4802A>G MANE Select | ENSP00000498587.1:p.His1601Arg | |
| ENST00000679595.1:c.4802A>G | ENSP00000506241.1:p.His1601Arg | |
| ENST00000680133.1:c.4688A>G | ENSP00000505319.1:p.His1563Arg | |
| ENST00000680218.1:c.4682A>G | ENSP00000505339.1:p.His1561Arg | |
| ENST00000680668.1:c.4688A>G | ENSP00000506336.1:p.His1563Arg | |
| ENST00000680778.1:c.2399A>G | ENSP00000506033.1:p.His800Arg | |
| ENST00000680924.1:c.*2202A>G | ENSP00000506031.1:n.*2202A>G | |
| ENST00000681135.1:c.*2411A>G | ENSP00000506636.1:n.*2411A>G | |
| ENST00000681298.1:n.1615A>G | ||
| ENST00000681454.1:c.*4038A>G | ENSP00000505763.1:n.*4038A>G | |
| ENST00000277541.6:c.4802A>G | ENSP00000277541.6:p.His1601Arg | |
| NM_017617.3:c.4802A>G | NP_060087.3:p.His1601Arg | |
| XM_011518717.1:c.4103A>G | XP_011517019.1:p.His1368Arg | |
| NM_017617.5:c.4802A>G MANE Select | NP_060087.3:p.His1601Arg | |
| XM_011518717.2:c.4079A>G | XP_011517019.2:p.His1360Arg |