Linked Data
dbSNP Id:
rs201360886
ExAC:
9:139399386 C / T
gnomAD v2:
9-139399386-C-T
gnomAD v3:
9-136504934-C-T
gnomAD v4:
9-136504934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504934C>T , CM000671.2:g.136504934C>T | GRCh38 |
| NC_000009.11:g.139399386C>T , CM000671.1:g.139399386C>T | GRCh37 |
| NC_000009.10:g.138519207C>T | NCBI36 |
| NG_007458.1:g.45853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2564G>A | ||
| ENST00000651671.1:c.4757G>A MANE Select | ENSP00000498587.1:p.Arg1586His | |
| ENST00000679595.1:c.4757G>A | ENSP00000506241.1:p.Arg1586His | |
| ENST00000680133.1:c.4643G>A | ENSP00000505319.1:p.Arg1548His | |
| ENST00000680218.1:c.4637G>A | ENSP00000505339.1:p.Arg1546His | |
| ENST00000680668.1:c.4643G>A | ENSP00000506336.1:p.Arg1548His | |
| ENST00000680778.1:c.2354G>A | ENSP00000506033.1:p.Arg785His | |
| ENST00000680924.1:c.*2157G>A | ENSP00000506031.1:n.*2157G>A | |
| ENST00000681135.1:c.*2366G>A | ENSP00000506636.1:n.*2366G>A | |
| ENST00000681298.1:n.1570G>A | ||
| ENST00000681454.1:c.*3993G>A | ENSP00000505763.1:n.*3993G>A | |
| ENST00000277541.6:c.4757G>A | ENSP00000277541.6:p.Arg1586His | |
| NM_017617.3:c.4757G>A | NP_060087.3:p.Arg1586His | |
| XM_011518717.1:c.4058G>A | XP_011517019.1:p.Arg1353His | |
| NM_017617.5:c.4757G>A MANE Select | NP_060087.3:p.Arg1586His | |
| XM_011518717.2:c.4034G>A | XP_011517019.2:p.Arg1345His |