Linked Data
ClinVar Variation Id:
213257
ClinVar RCV Id:
RCV002515354
dbSNP Id:
rs745600341
ExAC:
5:127597448 G / A
gnomAD v2:
5-127597448-G-A
gnomAD v3:
5-128261756-G-A
gnomAD v4:
5-128261756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261756G>A , CM000667.2:g.128261756G>A | GRCh38 |
| NC_000005.9:g.127597448G>A , CM000667.1:g.127597448G>A | GRCh37 |
| NC_000005.8:g.127625347G>A | NCBI36 |
| NG_008750.1:g.281288C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.8344C>T MANE Select | ENSP00000262464.4:p.His2782Tyr | |
| ENST00000262464.8:c.8344C>T | ENSP00000262464.4:p.His2782Tyr | |
| ENST00000508053.5:c.8344C>T | ENSP00000424571.1:p.His2782Tyr | |
| ENST00000619499.4:c.8341C>T | ENSP00000482132.1:p.His2781Tyr | |
| NM_001999.3:c.8344C>T | NP_001990.2:p.His2782Tyr | |
| XM_017009228.2:c.8191C>T | XP_016864717.1:p.His2731Tyr | |
| NM_001999.4:c.8344C>T MANE Select | NP_001990.2:p.His2782Tyr |