Linked Data
ClinVar Variation Id:
285654
dbSNP Id:
rs766226383
ExAC:
18:2743894 C / T
gnomAD v2:
18-2743894-C-T
gnomAD v3:
18-2743896-C-T
gnomAD v4:
18-2743896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2743896C>T , CM000680.2:g.2743896C>T | GRCh38 |
| NC_000018.9:g.2743894C>T , CM000680.1:g.2743894C>T | GRCh37 |
| NC_000018.8:g.2733894C>T | NCBI36 |
| NG_031972.1:g.93009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583441.2:n.1455C>T | ||
| ENST00000686763.1:c.574C>T | ENSP00000510263.1:p.Leu192Phe | |
| ENST00000686864.1:c.531C>T | ||
| ENST00000688342.1:c.3769C>T | ENSP00000508422.1:p.Leu1257Phe | |
| ENST00000688708.1:n.2425C>T | ||
| ENST00000690757.1:n.1226C>T | ||
| ENST00000693213.1:n.3047C>T | ||
| ENST00000320876.11:c.3769C>T MANE Select | ENSP00000326603.7:p.Leu1257Phe | |
| ENST00000320876.10:c.3769C>T | ENSP00000326603.6:p.Leu1257Phe | |
| ENST00000577880.5:c.2182C>T | ENSP00000463049.1:p.Leu728Phe | |
| ENST00000584897.5:c.1589C>T | ||
| NM_015295.2:c.3769C>T | NP_056110.2:p.Leu1257Phe | |
| XM_011525642.1:c.3769C>T | XP_011523944.1:p.Leu1257Phe | |
| XM_011525643.1:c.3769C>T | XP_011523945.1:p.Leu1257Phe | |
| XM_011525644.1:c.3385C>T | XP_011523946.1:p.Leu1129Phe | |
| XM_011525645.1:c.3205C>T | XP_011523947.1:p.Leu1069Phe | |
| XM_011525646.1:c.3769C>T | XP_011523948.1:p.Leu1257Phe | |
| XM_011525647.1:c.3769C>T | XP_011523949.1:p.Leu1257Phe | |
| XR_430039.1:n.3958C>T | ||
| XR_935054.1:n.3958C>T | ||
| XR_935055.1:n.3958C>T | ||
| XM_011525643.2:c.3769C>T | XP_011523945.1:p.Leu1257Phe | |
| XM_017025684.1:c.3205C>T | XP_016881173.1:p.Leu1069Phe | |
| XR_001753172.1:n.3958C>T | ||
| XR_001753173.1:n.3958C>T | ||
| XR_001753174.1:n.3958C>T | ||
| XR_001753175.1:n.3958C>T | ||
| XR_001753176.1:n.3958C>T | ||
| XR_001753177.1:n.3958C>T | ||
| XR_001753178.1:n.3958C>T | ||
| XR_001753179.1:n.3958C>T | ||
| XR_935055.2:n.3958C>T | ||
| NM_015295.3:c.3769C>T MANE Select | NP_056110.2:p.Leu1257Phe |