Linked Data
ClinVar Variation Id:
35599
ClinVar RCV Id:
RCV000029245
dbSNP Id:
rs142164373
gnomAD v4:
9-35090266-G-A
PubMed:
PMID:22683086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35090266G>A , CM000671.2:g.35090266G>A | GRCh38 |
| NC_000009.11:g.35090263G>A , CM000671.1:g.35090263G>A | GRCh37 |
| NC_000009.10:g.35080263G>A | NCBI36 |
| NG_031990.1:g.11336C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361778.7:c.1618C>T | ENSP00000354678.2:p.Leu540Phe | |
| ENST00000700254.1:c.1618C>T | ENSP00000514892.1:p.Leu540Phe | |
| ENST00000700255.1:c.*2049C>T | ENSP00000514893.1:n.*2049C>T | |
| ENST00000700256.1:n.3086C>T | ||
| ENST00000700257.1:c.2869C>T | ENSP00000514894.1:p.Leu957Phe | |
| ENST00000700258.1:n.860C>T | ||
| ENST00000700259.1:c.*432C>T | ENSP00000514895.1:n.*432C>T | |
| ENST00000700260.1:c.1438C>T | ENSP00000514896.1:p.Leu480Phe | |
| ENST00000700261.1:c.1876C>T | ENSP00000514897.1:p.Leu626Phe | |
| ENST00000700262.1:c.1618C>T | ENSP00000514898.1:p.Leu540Phe | |
| ENST00000700263.1:c.2745C>T | ENSP00000514899.1:n.2745C>T | |
| ENST00000700264.1:c.2869C>T | ENSP00000514900.1:p.Leu957Phe | |
| ENST00000378617.4:c.2869C>T MANE Select | ENSP00000367880.3:p.Leu957Phe | |
| ENST00000298004.9:c.1618C>T | ENSP00000298004.5:p.Leu540Phe | |
| ENST00000361778.6:c.1618C>T | ENSP00000354678.2:p.Leu540Phe | |
| ENST00000378617.3:c.2869C>T | ENSP00000367880.3:p.Leu957Phe | |
| ENST00000465745.6:n.3874C>T | ||
| ENST00000474436.1:n.5079C>T | ||
| ENST00000491687.1:n.204+200C>T | ||
| NM_001201484.1:c.1618C>T | NP_001188413.1:p.Leu540Phe | |
| NM_032634.3:c.2869C>T | NP_116023.2:p.Leu957Phe | |
| NM_152850.3:c.1618C>T | NP_690577.2:p.Leu540Phe | |
| XM_005251619.2:c.2869C>T | XP_005251676.1:p.Leu957Phe | |
| XM_011518056.1:c.2869C>T | XP_011516358.1:p.Leu957Phe | |
| XR_242515.1:n.2894C>T | ||
| XM_005251619.3:c.2869C>T | XP_005251676.1:p.Leu957Phe | |
| XM_017015222.2:c.2869C>T | XP_016870711.1:p.Leu957Phe | |
| XM_017015223.1:c.1618C>T | XP_016870712.1:p.Leu540Phe | |
| XM_017015224.1:c.1618C>T | XP_016870713.1:p.Leu540Phe | |
| XR_001746390.1:n.3296C>T | ||
| XR_001746391.2:n.1643C>T | ||
| XR_242515.3:n.2894C>T | ||
| NM_032634.4:c.2869C>T MANE Select | NP_116023.2:p.Leu957Phe | |
| NM_001201484.2:c.1618C>T | NP_001188413.1:p.Leu540Phe | |
| NM_152850.4:c.1618C>T | NP_690577.2:p.Leu540Phe |