Linked Data
ClinVar Variation Id:
502506
dbSNP Id:
rs139279260
ExAC:
2:219679438 C / T
gnomAD v2:
2-219679438-C-T
gnomAD v3:
2-218814715-C-T
gnomAD v4:
2-218814715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814715C>T , CM000664.2:g.218814715C>T | GRCh38 |
| NC_000002.11:g.219679438C>T , CM000664.1:g.219679438C>T | GRCh37 |
| NC_000002.10:g.219387682C>T | NCBI36 |
| NG_007959.1:g.37967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1434C>T MANE Select | ENSP00000258415.4:p.Gly478= | |
| ENST00000258415.8:c.1434C>T | ENSP00000258415.4:p.Gly478= | |
| ENST00000494263.5:n.2146C>T | ||
| NM_000784.3:c.1434C>T | NP_000775.1:p.Gly478= | |
| XM_017003488.2:c.1014C>T | XP_016858977.1:p.Gly338= | |
| NM_000784.4:c.1434C>T MANE Select | NP_000775.1:p.Gly478= |