Linked Data
ClinVar Variation Id:
25007
ClinVar RCV Id:
RCV000021926
dbSNP Id:
rs397514359
gnomAD v2:
3-15683550-T-C
gnomAD v3:
3-15642043-T-C
gnomAD v4:
3-15642043-T-C
PubMed:
PMID:10400129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15642043T>C , CM000665.2:g.15642043T>C | GRCh38 |
| NC_000003.11:g.15683550T>C , CM000665.1:g.15683550T>C | GRCh37 |
| NC_000003.10:g.15658554T>C | NCBI36 |
| NG_008019.1:g.45296T>C | |
| NG_008019.2:g.45692T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436193.6:c.385T>C | ENSP00000394277.2:p.Phe129Leu | |
| ENST00000671928.2:c.385T>C | ENSP00000500069.2:p.Phe129Leu | |
| ENST00000672892.2:c.385T>C | ENSP00000499944.2:p.Phe129Leu | |
| ENST00000303498.10:c.385T>C | ENSP00000306477.6:p.Phe129Leu | |
| ENST00000417015.3:c.385T>C | ENSP00000403775.3:p.Phe129Leu | |
| ENST00000427382.2:c.385T>C | ENSP00000397113.2:p.Phe129Leu | |
| ENST00000437172.6:c.385T>C | ENSP00000400995.2:p.Phe129Leu | |
| ENST00000449107.7:c.385T>C | ENSP00000388212.2:p.Phe129Leu | |
| ENST00000467027.6:n.1224T>C | ||
| ENST00000482824.2:c.385T>C | ENSP00000494864.1:p.Phe129Leu | |
| ENST00000643237.3:c.385T>C MANE Select | ENSP00000495254.2:p.Phe129Leu | |
| ENST00000646371.1:c.385T>C | ENSP00000495866.1:p.Phe129Leu | |
| ENST00000671928.1:c.151T>C | ENSP00000500069.1:p.Phe51Leu | |
| ENST00000672065.1:c.445T>C | ENSP00000500403.1:p.Phe149Leu | |
| ENST00000672112.1:c.451T>C | ENSP00000500193.1:p.Phe151Leu | |
| ENST00000672141.1:c.385T>C | ENSP00000500210.1:p.Phe129Leu | |
| ENST00000672336.1:c.385T>C | ENSP00000500267.1:p.Phe129Leu | |
| ENST00000672427.1:c.385T>C | ENSP00000500131.1:p.Phe129Leu | |
| ENST00000672760.1:c.385T>C | ENSP00000500530.1:p.Phe129Leu | |
| ENST00000672892.1:c.163T>C | ENSP00000499944.1:p.Phe55Leu | |
| ENST00000673467.1:c.385T>C | ENSP00000500288.1:p.Phe129Leu | |
| ENST00000673620.1:c.385T>C | ENSP00000500325.1:p.Phe129Leu | |
| ENST00000303498.9:c.445T>C | ENSP00000306477.5:p.Phe149Leu | |
| ENST00000383778.5:c.385T>C | ENSP00000373288.4:p.Phe129Leu | |
| ENST00000436193.5:c.385T>C | ENSP00000394277.1:p.Phe129Leu | |
| ENST00000437172.5:c.451T>C | ENSP00000400995.1:p.Phe151Leu | |
| ENST00000449107.5:c.451T>C | ENSP00000388212.1:p.Phe151Leu | |
| ENST00000482824.1:n.520T>C | ||
| NM_000060.3:c.445T>C | NP_000051.1:p.Phe149Leu | |
| NM_001281723.1:c.451T>C | NP_001268652.1:p.Phe151Leu | |
| NM_001281724.1:c.451T>C | NP_001268653.1:p.Phe151Leu | |
| NM_001281725.1:c.385T>C | NP_001268654.1:p.Phe129Leu | |
| NM_001281726.1:c.445T>C | NP_001268655.1:p.Phe149Leu | |
| XM_006713314.2:c.385T>C | XP_006713377.1:p.Phe129Leu | |
| XM_011534041.1:c.385T>C | XP_011532343.1:p.Phe129Leu | |
| NM_000060.4:c.445T>C | NP_000051.1:p.Phe149Leu | |
| NM_001281723.2:c.451T>C | NP_001268652.1:p.Phe151Leu | |
| NM_001281724.2:c.451T>C | NP_001268653.1:p.Phe151Leu | |
| NM_001281725.2:c.385T>C | NP_001268654.1:p.Phe129Leu | |
| NM_001323582.1:c.385T>C | NP_001310511.1:p.Phe129Leu | |
| XM_011534041.2:c.385T>C | XP_011532343.1:p.Phe129Leu | |
| XM_017007088.1:c.385T>C | XP_016862577.1:p.Phe129Leu | |
| XM_024453724.1:c.385T>C | XP_024309492.1:p.Phe129Leu | |
| NM_001281723.3:c.385T>C | NP_001268652.2:p.Phe129Leu | |
| NM_001281724.3:c.385T>C | NP_001268653.2:p.Phe129Leu | |
| NM_001370658.1:c.385T>C MANE Select | NP_001357587.1:p.Phe129Leu | |
| NM_001370752.1:c.385T>C | NP_001357681.1:p.Phe129Leu | |
| NM_001370753.1:c.385T>C | NP_001357682.1:p.Phe129Leu | |
| NM_001281726.2:c.385T>C | NP_001268655.2:p.Phe129Leu |