Linked Data
ClinVar Variation Id:
332237
dbSNP Id:
rs143058194
ExAC:
2:171709291 G / T
gnomAD v2:
2-171709291-G-T
gnomAD v3:
2-170852781-G-T
gnomAD v4:
2-170852781-G-T
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170852781G>T , CM000664.2:g.170852781G>T | GRCh38 |
| NC_000002.11:g.171709291G>T , CM000664.1:g.171709291G>T | GRCh37 |
| NC_000002.10:g.171417537G>T | NCBI36 |
| NG_021477.1:g.41092G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358196.8:c.1252G>T MANE Select | ENSP00000350928.3:p.Val418Phe | |
| ENST00000358196.7:c.1252G>T | ENSP00000350928.3:p.Val418Phe | |
| ENST00000414527.6:c.*437G>T | ENSP00000403849.1:n.*437G>T | |
| ENST00000478562.1:n.294G>T | ||
| ENST00000488724.5:n.352G>T | ||
| ENST00000493875.5:c.*86G>T | ENSP00000434696.1:n.*86G>T | |
| ENST00000625689.2:c.*86G>T | ENSP00000486612.1:n.*86G>T | |
| NM_000817.2:c.1252G>T | NP_000808.2:p.Val418Phe | |
| XM_011510922.1:c.1252G>T | XP_011509224.1:p.Val418Phe | |
| XM_017003756.1:c.1252G>T | XP_016859245.1:p.Val418Phe | |
| XM_024452783.1:c.484G>T | XP_024308551.1:p.Val162Phe | |
| NM_000817.3:c.1252G>T MANE Select | NP_000808.2:p.Val418Phe |