Linked Data
ClinVar Variation Id:
487322
dbSNP Id:
rs151129529
ExAC:
7:106888938 G / A
gnomAD v2:
7-106888938-G-A
gnomAD v3:
7-107248493-G-A
gnomAD v4:
7-107248493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107248493G>A , CM000669.2:g.107248493G>A | GRCh38 |
| NC_000007.13:g.106888938G>A , CM000669.1:g.106888938G>A | GRCh37 |
| NC_000007.12:g.106676174G>A | NCBI36 |
| NG_028095.1:g.321022C>T | |
| NG_028095.2:g.321022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297135.9:c.1756C>T MANE Select | ENSP00000297135.4:p.His586Tyr | |
| ENST00000347053.8:c.1693C>T | ENSP00000334703.3:p.His565Tyr | |
| ENST00000393603.7:c.1756C>T | ENSP00000377228.3:p.His586Tyr | |
| ENST00000297135.7:c.1849C>T | ENSP00000297135.3:p.His617Tyr | |
| ENST00000347053.7:c.1786C>T | ENSP00000334703.2:p.His596Tyr | |
| ENST00000393603.6:c.1849C>T | ENSP00000377228.2:p.His617Tyr | |
| ENST00000462342.1:n.447C>T | ||
| ENST00000464542.5:n.207C>T | ||
| ENST00000468350.5:n.351C>T | ||
| NM_001161520.1:c.1849C>T | NP_001154992.1:p.His617Tyr | |
| NM_006348.3:c.1849C>T | NP_006339.3:p.His617Tyr | |
| NM_181733.2:c.1786C>T | NP_859422.2:p.His596Tyr | |
| NM_001161520.2:c.1756C>T | NP_001154992.2:p.His586Tyr | |
| NM_006348.4:c.1756C>T | NP_006339.4:p.His586Tyr | |
| NM_181733.3:c.1693C>T | NP_859422.3:p.His565Tyr | |
| NM_001379511.1:c.1594C>T | NP_001366440.1:p.His532Tyr | |
| NM_001379512.1:c.1582C>T | NP_001366441.1:p.His528Tyr | |
| NM_001379513.1:c.1756C>T | NP_001366442.1:p.His586Tyr | |
| NM_001379514.1:c.1756C>T | NP_001366443.1:p.His586Tyr | |
| NM_001379515.1:c.1186C>T | NP_001366444.1:p.His396Tyr | |
| NM_001379516.1:c.1042C>T | NP_001366445.1:p.His348Tyr | |
| NM_006348.5:c.1756C>T MANE Select | NP_006339.4:p.His586Tyr | |
| NM_181733.4:c.1693C>T | NP_859422.3:p.His565Tyr |