Linked Data
ClinVar Variation Id:
1330436
ClinVar RCV Id:
RCV001803528
dbSNP Id:
rs782267337
ExAC:
12:6979487 C / T
gnomAD v2:
12-6979487-C-T
gnomAD v3:
12-6870323-C-T
gnomAD v4:
12-6870323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870323C>T , CM000674.2:g.6870323C>T | GRCh38 |
| NC_000012.11:g.6979487C>T , CM000674.1:g.6979487C>T | GRCh37 |
| NC_000012.10:g.6849748C>T | NCBI36 |
| NG_011948.1:g.7904C>T | |
| NG_013308.1:g.8035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.690C>T MANE Select | ENSP00000379933.4:p.Phe230= | |
| ENST00000229270.8:c.801C>T | ENSP00000229270.4:p.Phe267= | |
| ENST00000396705.9:c.690C>T | ENSP00000379933.4:p.Phe230= | |
| ENST00000474253.1:n.179C>T | ||
| ENST00000488464.6:c.444C>T | ENSP00000475620.1:p.Phe148= | |
| ENST00000535434.5:c.444C>T | ENSP00000443599.1:p.Phe148= | |
| ENST00000613953.4:c.801C>T | ENSP00000484435.1:p.Phe267= | |
| NM_000365.5:c.690C>T | NP_000356.1:p.Phe230= | |
| NM_001159287.1:c.801C>T | NP_001152759.1:p.Phe267= | |
| NM_001258026.1:c.444C>T | NP_001244955.1:p.Phe148= | |
| XR_002957378.1:n.1698C>T | ||
| NM_000365.6:c.690C>T MANE Select | NP_000356.1:p.Phe230= | |
| NM_001258026.2:c.444C>T | NP_001244955.1:p.Phe148= |