Linked Data
dbSNP Id:
rs2133336694
gnomAD v4:
9-136504888-G-A
MyVariant Identifiers:
chr9:g.139399340G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504888G>A , CM000671.2:g.136504888G>A | GRCh38 |
| NC_000009.11:g.139399340G>A , CM000671.1:g.139399340G>A | GRCh37 |
| NC_000009.10:g.138519161G>A | NCBI36 |
| NG_007458.1:g.45899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2610C>T | ||
| ENST00000651671.1:c.4803C>T MANE Select | ENSP00000498587.1:p.His1601= | |
| ENST00000679595.1:c.4803C>T | ENSP00000506241.1:p.His1601= | |
| ENST00000680133.1:c.4689C>T | ENSP00000505319.1:p.His1563= | |
| ENST00000680218.1:c.4683C>T | ENSP00000505339.1:p.His1561= | |
| ENST00000680668.1:c.4689C>T | ENSP00000506336.1:p.His1563= | |
| ENST00000680778.1:c.2400C>T | ENSP00000506033.1:p.His800= | |
| ENST00000680924.1:c.*2203C>T | ENSP00000506031.1:n.*2203C>T | |
| ENST00000681135.1:c.*2412C>T | ENSP00000506636.1:n.*2412C>T | |
| ENST00000681298.1:n.1616C>T | ||
| ENST00000681454.1:c.*4039C>T | ENSP00000505763.1:n.*4039C>T | |
| ENST00000277541.6:c.4803C>T | ENSP00000277541.6:p.His1601= | |
| NM_017617.3:c.4803C>T | NP_060087.3:p.His1601= | |
| XM_011518717.1:c.4104C>T | XP_011517019.1:p.His1368= | |
| NM_017617.5:c.4803C>T MANE Select | NP_060087.3:p.His1601= | |
| XM_011518717.2:c.4080C>T | XP_011517019.2:p.His1360= |