Linked Data
ClinVar Variation Id:
126698
ClinVar RCV Id:
RCV000116095
RCV000114577
RCV000212772
RCV001249253
RCV001192907
RCV001355228
RCV001119843
RCV003492442
RCV004528791
dbSNP Id:
rs61756147
ExAC:
16:23647569 G / A
gnomAD v2:
16-23647569-G-A
gnomAD v3:
16-23636248-G-A
gnomAD v4:
16-23636248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23636248G>A , CM000678.2:g.23636248G>A | GRCh38 |
| NC_000016.9:g.23647569G>A , CM000678.1:g.23647569G>A | GRCh37 |
| NC_000016.8:g.23555070G>A | NCBI36 |
| NG_007406.1:g.10110C>T , LRG_308:g.10110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.304C>T | ENSP00000460666.3:p.Leu102Phe | |
| ENST00000565038.2:c.211+1602C>T | ENSP00000459882.2:n.211+1602C>T | |
| ENST00000566069.6:c.298C>T | ENSP00000459237.2:p.Leu100Phe | |
| ENST00000697377.2:c.304C>T | ENSP00000513286.2:p.Leu102Phe | |
| ENST00000697379.2:c.304C>T | ENSP00000513287.2:p.Leu102Phe | |
| ENST00000561514.2:c.-588C>T | ENSP00000460666.2:n.-588C>T | |
| ENST00000697374.1:c.-588C>T | ENSP00000513284.1:n.-588C>T | |
| ENST00000697375.1:n.1645C>T | ||
| ENST00000697376.1:c.-588C>T | ENSP00000513285.1:n.-588C>T | |
| ENST00000697377.1:c.-588C>T | ENSP00000513286.1:n.-588C>T | |
| ENST00000697378.1:n.818C>T | ||
| ENST00000697379.1:c.-588C>T | ENSP00000513287.1:n.-588C>T | |
| ENST00000697382.1:c.-588C>T | ENSP00000513288.1:n.-588C>T | |
| ENST00000697383.1:c.48+4862C>T | ENSP00000513289.1:n.48+4862C>T | |
| ENST00000697384.1:n.452C>T | ||
| ENST00000261584.9:c.298C>T MANE Select | ENSP00000261584.4:p.Leu100Phe | |
| ENST00000261584.8:c.298C>T | ENSP00000261584.4:p.Leu100Phe | |
| ENST00000565038.1:c.86+1602C>T | ||
| ENST00000567003.1:n.576C>T | ||
| ENST00000568219.5:c.-588C>T | ENSP00000454703.2:n.-588C>T | |
| NM_024675.3:c.298C>T , LRG_308t1:c.298C>T | NP_078951.2:p.Leu100Phe | |
| XM_011545946.1:c.304C>T | XP_011544248.1:p.Leu102Phe | |
| XM_011545947.1:c.304C>T | XP_011544249.1:p.Leu102Phe | |
| XM_011545948.1:c.-588C>T | XP_011544250.1:n.-588C>T | |
| XR_950851.1:n.1094C>T | ||
| XM_011545946.2:c.304C>T | XP_011544248.1:p.Leu102Phe | |
| XM_011545947.2:c.304C>T | XP_011544249.1:p.Leu102Phe | |
| XM_011545948.2:c.-588C>T | XP_011544250.1:n.-588C>T | |
| XM_017023671.1:c.304C>T | XP_016879160.1:p.Leu102Phe | |
| XM_017023672.2:c.298C>T | XP_016879161.1:p.Leu100Phe | |
| XM_017023673.2:c.298C>T | XP_016879162.1:p.Leu100Phe | |
| NM_024675.4:c.298C>T MANE Select | NP_078951.2:p.Leu100Phe |