Linked Data
ClinVar Variation Id:
458329
ClinVar RCV Id:
RCV002231257
dbSNP Id:
rs149065210
ExAC:
9:130582234 C / T
gnomAD v2:
9-130582234-C-T
gnomAD v3:
9-127819955-C-T
gnomAD v4:
9-127819955-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127819955C>T , CM000671.2:g.127819955C>T | GRCh38 |
| NC_000009.11:g.130582234C>T , CM000671.1:g.130582234C>T | GRCh37 |
| NC_000009.10:g.129622055C>T | NCBI36 |
| NG_009551.1:g.39814G>A , LRG_589:g.39814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.671G>A | ENSP00000479015.1:p.Arg224His | |
| ENST00000373203.9:c.1217G>A MANE Select | ENSP00000362299.4:p.Arg406His | |
| ENST00000344849.4:c.1217G>A | ENSP00000341917.3:p.Arg406His | |
| ENST00000373203.8:c.1217G>A | ENSP00000362299.4:p.Arg406His | |
| ENST00000480266.5:c.671G>A | ENSP00000479015.1:p.Arg224His | |
| ENST00000486329.1:n.185G>A | ||
| NM_000118.3:c.1217G>A , LRG_589t1:c.1217G>A | NP_000109.1:p.Arg406His | |
| NM_001114753.2:c.1217G>A , LRG_589t2:c.1217G>A | NP_001108225.1:p.Arg406His | |
| NM_001278138.1:c.671G>A | NP_001265067.1:p.Arg224His | |
| NR_136302.1:n.1569-1240C>T | ||
| NM_001114753.3:c.1217G>A MANE Select | NP_001108225.1:p.Arg406His | |
| NM_001278138.2:c.671G>A | NP_001265067.1:p.Arg224His |