Linked Data
ClinVar Variation Id:
2701
ClinVar RCV Id:
RCV000002820
dbSNP Id:
rs119454947
gnomAD v4:
16-1195503-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1195503C>A , CM000678.2:g.1195503C>A | GRCh38 |
| NC_000016.9:g.1245503C>A , CM000678.1:g.1245503C>A | GRCh37 |
| NC_000016.8:g.1185504C>A | NCBI36 |
| NG_012647.1:g.47263C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562079.6:c.483C>A | ENSP00000454581.2:p.Phe161Leu | |
| ENST00000564231.6:c.483C>A | ENSP00000457555.2:p.Phe161Leu | |
| ENST00000565831.7:c.483C>A | ENSP00000455840.1:p.Phe161Leu | |
| ENST00000569107.6:c.483C>A | ENSP00000454990.2:p.Phe161Leu | |
| ENST00000621827.2:c.483C>A | ENSP00000518766.1:p.Phe161Leu | |
| ENST00000637236.3:c.483C>A | ENSP00000492650.2:p.Phe161Leu | |
| ENST00000711438.1:c.444C>A | ENSP00000518754.1:p.Phe148Leu | |
| ENST00000711442.1:c.483C>A | ENSP00000518758.1:p.Phe161Leu | |
| ENST00000711443.1:n.69-4753C>A | ||
| ENST00000711447.1:c.36-4753C>A | ENSP00000518759.1:n.36-4753C>A | |
| ENST00000711448.1:c.483C>A | ENSP00000518760.1:p.Phe161Leu | |
| ENST00000711449.1:c.483C>A | ENSP00000518761.1:p.Phe161Leu | |
| ENST00000711450.1:c.483C>A | ENSP00000518762.1:p.Phe161Leu | |
| ENST00000711451.1:c.483C>A | ENSP00000518763.1:p.Phe161Leu | |
| ENST00000711452.1:c.483C>A | ENSP00000518764.1:p.Phe161Leu | |
| ENST00000711453.1:c.483C>A | ENSP00000518765.1:p.Phe161Leu | |
| ENST00000711455.1:c.483C>A | ENSP00000518768.1:p.Phe161Leu | |
| ENST00000711456.1:c.483C>A | ENSP00000518769.1:p.Phe161Leu | |
| ENST00000711481.1:c.559-3112C>A | ENSP00000518770.1:n.559-3112C>A | |
| ENST00000711482.1:c.483C>A | ENSP00000518771.1:p.Phe161Leu | |
| ENST00000711483.1:c.483C>A | ENSP00000518772.1:p.Phe161Leu | |
| ENST00000711484.1:c.483C>A | ENSP00000518773.1:p.Phe161Leu | |
| ENST00000711485.1:c.483C>A | ENSP00000518774.1:p.Phe161Leu | |
| ENST00000711486.1:c.483C>A | ENSP00000518775.1:p.Phe161Leu | |
| ENST00000711487.1:c.483C>A | ENSP00000518776.1:p.Phe161Leu | |
| ENST00000711488.1:c.483C>A | ENSP00000518777.1:p.Phe161Leu | |
| ENST00000711493.1:c.483C>A | ENSP00000518778.1:p.Phe161Leu | |
| ENST00000348261.11:c.483C>A MANE Select | ENSP00000334198.7:p.Phe161Leu | |
| ENST00000565831.6:c.483C>A | ENSP00000455840.1:p.Phe161Leu | |
| ENST00000638323.1:c.444C>A | ENSP00000492267.1:p.Phe148Leu | |
| ENST00000639478.1:c.483C>A | ENSP00000491945.1:p.Phe161Leu | |
| ENST00000640028.1:c.483C>A | ENSP00000491488.1:p.Phe161Leu | |
| ENST00000348261.9:c.483C>A | ENSP00000334198.7:p.Phe161Leu | |
| ENST00000358590.8:c.483C>A | ENSP00000351401.4:p.Phe161Leu | |
| ENST00000564954.1:n.127C>A | ||
| ENST00000565831.5:c.483C>A | ENSP00000455840.1:p.Phe161Leu | |
| NM_001005407.1:c.483C>A | NP_001005407.1:p.Phe161Leu | |
| NM_021098.2:c.483C>A | NP_066921.2:p.Phe161Leu | |
| XM_005255652.3:c.483C>A | XP_005255709.1:p.Phe161Leu | |
| XM_006720963.2:c.483C>A | XP_006721026.1:p.Phe161Leu | |
| XM_006720964.2:c.483C>A | XP_006721027.1:p.Phe161Leu | |
| XM_006720965.2:c.483C>A | XP_006721028.1:p.Phe161Leu | |
| XM_006720967.2:c.483C>A | XP_006721030.1:p.Phe161Leu | |
| XM_006720968.2:c.483C>A | XP_006721031.1:p.Phe161Leu | |
| XM_006720969.2:c.483C>A | XP_006721032.1:p.Phe161Leu | |
| XM_011522726.1:c.483C>A | XP_011521028.1:p.Phe161Leu | |
| XM_011522727.1:c.483C>A | XP_011521029.1:p.Phe161Leu | |
| XR_932960.1:n.585C>A | ||
| XM_005255652.4:c.483C>A | XP_005255709.1:p.Phe161Leu | |
| XM_006720963.3:c.483C>A | XP_006721026.1:p.Phe161Leu | |
| XM_006720964.3:c.483C>A | XP_006721027.1:p.Phe161Leu | |
| XM_006720965.3:c.483C>A | XP_006721028.1:p.Phe161Leu | |
| XM_006720967.3:c.483C>A | XP_006721030.1:p.Phe161Leu | |
| XM_006720968.3:c.483C>A | XP_006721031.1:p.Phe161Leu | |
| XM_011522727.3:c.483C>A | XP_011521029.1:p.Phe161Leu | |
| XM_017023819.1:c.444C>A | XP_016879308.1:p.Phe148Leu | |
| XM_017023820.1:c.483C>A | XP_016879309.1:p.Phe161Leu | |
| XM_017023821.1:c.483C>A | XP_016879310.1:p.Phe161Leu | |
| XR_002957850.1:n.581C>A | ||
| NM_021098.3:c.483C>A MANE Select | NP_066921.2:p.Phe161Leu | |
| NM_001005407.2:c.483C>A | NP_001005407.1:p.Phe161Leu |