Linked Data
ClinVar Variation Id:
497867
dbSNP Id:
rs847195
ExAC:
2:176958011 C / T
gnomAD v2:
2-176958011-C-T
gnomAD v3:
2-176093283-C-T
gnomAD v4:
2-176093283-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093283C>T , CM000664.2:g.176093283C>T | GRCh38 |
| NC_000002.11:g.176958011C>T , CM000664.1:g.176958011C>T | GRCh37 |
| NC_000002.10:g.176666257C>T | NCBI36 |
| NG_008137.1:g.5480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.393C>T MANE Select | ENSP00000376322.3:p.Phe131= | |
| ENST00000392539.3:c.393C>T | ENSP00000376322.3:p.Phe131= | |
| NM_000523.3:c.393C>T | NP_000514.2:p.Phe131= | |
| XM_011511068.1:c.725-1197C>T | XP_011509370.1:n.725-1197C>T | |
| XM_011511068.2:c.725-1197C>T | XP_011509370.1:n.725-1197C>T | |
| NM_000523.4:c.393C>T MANE Select | NP_000514.2:p.Phe131= |