Linked Data
ClinVar Variation Id:
2914011
ClinVar RCV Id:
RCV003634260
dbSNP Id:
rs753967360
ExAC:
2:96920594 T / C
gnomAD v2:
2-96920594-T-C
gnomAD v4:
2-96254856-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254856T>C , CM000664.2:g.96254856T>C | GRCh38 |
| NC_000002.11:g.96920594T>C , CM000664.1:g.96920594T>C | GRCh37 |
| NC_000002.10:g.96284321T>C | NCBI36 |
| NG_027695.1:g.16158A>G , LRG_528:g.16158A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.386A>G MANE Select | ENSP00000258439.3:p.Tyr129Cys | |
| ENST00000258439.7:c.386A>G | ENSP00000258439.2:p.Tyr129Cys | |
| ENST00000432959.1:c.386A>G | ENSP00000416660.1:p.Tyr129Cys | |
| ENST00000435268.1:c.134A>G | ENSP00000411810.1:p.Tyr45Cys | |
| NM_001193304.2:c.386A>G | NP_001180233.1:p.Tyr129Cys | |
| NM_017849.3:c.386A>G , LRG_528t1:c.386A>G | NP_060319.1:p.Tyr129Cys | |
| XM_017004450.1:c.-533A>G | XP_016859939.1:n.-533A>G | |
| XM_017004452.1:c.134A>G | XP_016859941.1:p.Tyr45Cys | |
| NM_001193304.3:c.386A>G | NP_001180233.1:p.Tyr129Cys | |
| NM_017849.4:c.386A>G MANE Select | NP_060319.1:p.Tyr129Cys |