Linked Data
ClinVar Variation Id:
2538269
ClinVar RCV Id:
RCV003256484
dbSNP Id:
rs749441353
ExAC:
14:51410886 C / T
gnomAD v2:
14-51410886-C-T
gnomAD v4:
14-50944168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944168C>T , CM000676.2:g.50944168C>T | GRCh38 |
| NC_000014.8:g.51410886C>T , CM000676.1:g.51410886C>T | GRCh37 |
| NC_000014.7:g.50480636C>T | NCBI36 |
| NG_012796.1:g.5363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.236G>A MANE Select | ENSP00000216392.7:p.Cys79Tyr | |
| ENST00000216392.7:c.236G>A | ENSP00000216392.7:p.Cys79Tyr | |
| ENST00000530336.2:n.303G>A | ||
| ENST00000532462.5:c.236G>A | ENSP00000431657.1:p.Cys79Tyr | |
| ENST00000544180.6:c.236G>A | ENSP00000443787.1:p.Cys79Tyr | |
| NM_001163940.1:c.236G>A | NP_001157412.1:p.Cys79Tyr | |
| NM_002863.4:c.236G>A | NP_002854.3:p.Cys79Tyr | |
| NM_002863.5:c.236G>A MANE Select | NP_002854.3:p.Cys79Tyr | |
| NM_001163940.2:c.236G>A | NP_001157412.1:p.Cys79Tyr |