Linked Data
ClinVar Variation Id:
10893
ClinVar RCV Id:
RCV000011640
dbSNP Id:
rs121917898
PubMed:
PMID:12379317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355393A>C , CM000685.2:g.19355393A>C | GRCh38 |
| NC_000023.10:g.19373511A>C , CM000685.1:g.19373511A>C | GRCh37 |
| NC_000023.9:g.19283432A>C | NCBI36 |
| NG_016781.1:g.16501A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.669A>C | ENSP00000348062.6:p.Leu223Phe | |
| ENST00000379805.4:c.*340A>C | ENSP00000369133.3:n.*340A>C | |
| ENST00000417819.6:c.732A>C | ENSP00000404616.2:p.Leu244Phe | |
| ENST00000423505.6:c.762A>C | ENSP00000406473.2:p.Leu254Phe | |
| ENST00000481733.2:n.443A>C | ||
| ENST00000696704.1:c.463A>C | ENSP00000512823.1:p.Thr155Pro | |
| ENST00000696705.1:c.*103A>C | ENSP00000512824.1:n.*103A>C | |
| ENST00000422285.7:c.648A>C MANE Select | ENSP00000394382.2:p.Leu216Phe | |
| ENST00000379806.9:c.762A>C | ENSP00000369134.5:p.Leu254Phe | |
| ENST00000422285.6:c.648A>C | ENSP00000394382.2:p.Leu216Phe | |
| ENST00000479146.1:n.483A>C | ||
| ENST00000481733.1:n.76A>C | ||
| ENST00000540249.5:c.555A>C | ENSP00000440761.1:p.Leu185Phe | |
| ENST00000545074.5:c.669A>C | ENSP00000438550.1:p.Leu223Phe | |
| NM_000284.3:c.648A>C | NP_000275.1:p.Leu216Phe | |
| NM_001173454.1:c.762A>C | NP_001166925.1:p.Leu254Phe | |
| NM_001173455.1:c.669A>C | NP_001166926.1:p.Leu223Phe | |
| NM_001173456.1:c.555A>C | NP_001166927.1:p.Leu185Phe | |
| XM_011545531.1:c.783A>C | XP_011543833.1:p.Leu261Phe | |
| XM_011545532.1:c.690A>C | XP_011543834.1:p.Leu230Phe | |
| XM_017029574.2:c.669A>C | XP_016885063.1:p.Leu223Phe | |
| NM_000284.4:c.648A>C MANE Select | NP_000275.1:p.Leu216Phe | |
| NM_001173454.2:c.762A>C | NP_001166925.1:p.Leu254Phe | |
| NM_001173455.2:c.669A>C | NP_001166926.1:p.Leu223Phe | |
| NM_001173456.2:c.555A>C | NP_001166927.1:p.Leu185Phe |