Linked Data
ClinVar Variation Id:
1940739
ClinVar RCV Id:
RCV002639481
dbSNP Id:
rs763149418
ExAC:
8:145151302 C / T
gnomAD v2:
8-145151302-C-T
gnomAD v4:
8-144096399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144096399C>T , CM000670.2:g.144096399C>T | GRCh38 |
| NC_000008.10:g.145151302C>T , CM000670.1:g.145151302C>T | GRCh37 |
| NC_000008.9:g.145223290C>T | NCBI36 |
| NG_033872.1:g.6365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.516C>T MANE Select | ENSP00000317159.4:p.Phe172= | |
| ENST00000318911.4:c.516C>T | ENSP00000317159.4:p.Phe172= | |
| ENST00000525122.1:n.55C>T | ||
| ENST00000528618.1:n.715C>T | ||
| ENST00000533444.1:n.1181C>T | ||
| NM_001916.4:c.516C>T | NP_001907.2:p.Phe172= | |
| XM_017013102.1:c.339C>T | XP_016868591.1:p.Phe113= | |
| XM_024447072.1:c.339C>T | XP_024302840.1:p.Phe113= | |
| NM_001916.5:c.516C>T MANE Select | NP_001907.3:p.Phe172= |