Linked Data
ClinVar Variation Id:
365881
dbSNP Id:
rs377483407
ExAC:
9:139326418 G / A
gnomAD v2:
9-139326418-G-A
gnomAD v3:
9-136431966-G-A
gnomAD v4:
9-136431966-G-A
PubMed:
PMID:24463507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136431966G>A , CM000671.2:g.136431966G>A | GRCh38 |
| NC_000009.11:g.139326418G>A , CM000671.1:g.139326418G>A | GRCh37 |
| NC_000009.10:g.138446239G>A | NCBI36 |
| NG_016126.1:g.12839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1407C>T MANE Select | ENSP00000360777.3:p.Phe469= | |
| ENST00000676019.1:c.1305C>T | ENSP00000501984.1:p.Phe435= | |
| ENST00000371712.3:c.1407C>T | ENSP00000360777.3:p.Phe469= | |
| NM_019892.4:c.1407C>T | NP_063945.2:p.Phe469= | |
| XM_005266094.2:c.1404C>T | XP_005266151.1:p.Phe468= | |
| XR_929828.1:n.2010C>T | ||
| NM_001318502.1:c.1404C>T | NP_001305431.1:p.Phe468= | |
| NM_019892.5:c.1407C>T | NP_063945.2:p.Phe469= | |
| XM_017014926.1:c.1407C>T | XP_016870415.1:p.Phe469= | |
| XR_929828.2:n.2012C>T | ||
| NM_019892.6:c.1407C>T MANE Select | NP_063945.2:p.Phe469= | |
| NM_001318502.2:c.1404C>T | NP_001305431.1:p.Phe468= |