Linked Data
ClinVar Variation Id:
36392
dbSNP Id:
rs193922641
ExAC:
5:35867539 G / A
gnomAD v2:
5-35867539-G-A
gnomAD v3:
5-35867437-G-A
gnomAD v4:
5-35867437-G-A
ERepo:
CA214043/MONDO:0012163/119
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867437G>A , CM000667.2:g.35867437G>A | GRCh38 |
| NC_000005.9:g.35867539G>A , CM000667.1:g.35867539G>A | GRCh37 |
| NC_000005.8:g.35903296G>A | NCBI36 |
| NG_009567.1:g.15549G>A , LRG_74:g.15549G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.353G>A MANE Select | ENSP00000306157.3:p.Cys118Tyr | |
| ENST00000303115.7:c.353G>A | ENSP00000306157.3:p.Cys118Tyr | |
| ENST00000506850.5:c.353G>A | ENSP00000421207.1:p.Cys118Tyr | |
| ENST00000511031.1:n.487G>A | ||
| ENST00000511982.1:c.353G>A | ENSP00000425309.1:p.Cys118Tyr | |
| ENST00000514217.5:c.353G>A | ENSP00000427688.1:p.Cys118Tyr | |
| NM_002185.3:c.353G>A | NP_002176.2:p.Cys118Tyr | |
| NR_120485.1:n.456G>A | ||
| XM_005248299.2:c.353G>A | XP_005248356.1:p.Cys118Tyr | |
| XM_005248300.1:c.353G>A | XP_005248357.1:p.Cys118Tyr | |
| XM_011514037.1:c.353G>A | XP_011512339.1:p.Cys118Tyr | |
| NM_002185.4:c.353G>A | NP_002176.2:p.Cys118Tyr | |
| NR_120485.2:n.482G>A | ||
| XM_005248299.4:c.353G>A | XP_005248356.1:p.Cys118Tyr | |
| NM_002185.5:c.353G>A MANE Select | NP_002176.2:p.Cys118Tyr | |
| NR_120485.3:n.440G>A |