Linked Data
ClinVar Variation Id:
500524
dbSNP Id:
rs201973197
ExAC:
1:145522597 G / A
gnomAD v2:
1-145522597-G-A
gnomAD v3:
1-145912483-C-T
gnomAD v4:
1-145912483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912483C>T , CM000663.2:g.145912483C>T | GRCh38 |
| NC_000001.10:g.145522597G>A , CM000663.1:g.145522597G>A | GRCh37 |
| NC_000001.9:g.144233954G>A | NCBI36 |
| NG_033000.3:g.11442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.458G>A MANE Select | ENSP00000358312.3:p.Cys153Tyr | |
| ENST00000369306.7:c.458G>A | ENSP00000358312.3:p.Cys153Tyr | |
| ENST00000537888.1:c.416G>A | ENSP00000437510.1:p.Cys139Tyr | |
| NM_001184795.1:c.416G>A | NP_001171724.1:p.Cys139Tyr | |
| NM_003846.2:c.458G>A | NP_003837.1:p.Cys153Tyr | |
| NR_073491.1:n.690G>A | ||
| NR_073492.1:n.684G>A | ||
| NR_073493.2:n.906G>A | ||
| NM_003846.3:c.458G>A MANE Select | NP_003837.1:p.Cys153Tyr | |
| NR_073491.2:n.483G>A | ||
| NR_073492.2:n.477G>A |