Linked Data
ClinVar Variation Id:
8348
ClinVar RCV Id:
RCV000008853
dbSNP Id:
rs104893711
PubMed:
PMID:12915654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284316T>C , CM000665.2:g.122284316T>C | GRCh38 |
| NC_000003.11:g.122003163T>C , CM000665.1:g.122003163T>C | GRCh37 |
| NC_000003.10:g.123485853T>C | NCBI36 |
| NG_009058.1:g.105634T>C | |
| NG_009058.2:g.105649T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.2131T>C | ENSP00000418685.2:p.Phe711Leu | |
| ENST00000498619.4:c.2392T>C | ENSP00000420194.1:p.Phe798Leu | |
| ENST00000638421.1:c.2362T>C | ENSP00000492190.1:p.Phe788Leu | |
| ENST00000639785.2:c.2362T>C MANE Select | ENSP00000491584.2:p.Phe788Leu | |
| ENST00000490131.5:c.2362T>C | ENSP00000418685.1:p.Phe788Leu | |
| ENST00000498619.2:c.2392T>C | ENSP00000420194.1:p.Phe798Leu | |
| NM_000388.3:c.2362T>C | NP_000379.2:p.Phe788Leu | |
| NM_001178065.1:c.2392T>C | NP_001171536.1:p.Phe798Leu | |
| XM_005247836.2:c.2362T>C | XP_005247893.1:p.Phe788Leu | |
| XM_005247837.2:c.1879T>C | XP_005247894.1:p.Phe627Leu | |
| XM_006713789.2:c.2362T>C | XP_006713852.1:p.Phe788Leu | |
| XM_011513237.1:c.2362T>C | XP_011511539.1:p.Phe788Leu | |
| XM_011513238.1:c.2362T>C | XP_011511540.1:p.Phe788Leu | |
| XM_011513239.1:c.1774T>C | XP_011511541.1:p.Phe592Leu | |
| XM_006713789.3:c.2362T>C | XP_006713852.1:p.Phe788Leu | |
| XM_017007324.1:c.2362T>C | XP_016862813.1:p.Phe788Leu | |
| XM_017007325.1:c.2362T>C | XP_016862814.1:p.Phe788Leu | |
| NM_000388.4:c.2362T>C MANE Select | NP_000379.3:p.Phe788Leu | |
| NM_001178065.2:c.2392T>C | NP_001171536.2:p.Phe798Leu |