Linked Data
ClinVar Variation Id:
241507
dbSNP Id:
rs142481526
ExAC:
16:4847754 G / A
gnomAD v2:
16-4847754-G-A
gnomAD v3:
16-4797753-G-A
gnomAD v4:
16-4797753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797753G>A , CM000678.2:g.4797753G>A | GRCh38 |
| NC_000016.9:g.4847754G>A , CM000678.1:g.4847754G>A | GRCh37 |
| NC_000016.8:g.4787755G>A | NCBI36 |
| NG_032174.1:g.10198C>T , LRG_455:g.10198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.783C>T MANE Select | ENSP00000322832.6:p.Phe261= | |
| ENST00000322048.11:c.783C>T | ENSP00000322832.5:p.Phe261= | |
| ENST00000586153.1:c.425C>T | ENSP00000464699.1:n.425C>T | |
| ENST00000586336.5:n.882C>T | ||
| ENST00000586504.5:c.513C>T | ||
| ENST00000587377.5:c.*103C>T | ENSP00000468343.1:n.*103C>T | |
| ENST00000587711.5:c.468C>T | ENSP00000467459.1:p.Phe156= | |
| ENST00000587843.5:c.*521C>T | ENSP00000465970.1:n.*521C>T | |
| ENST00000588201.5:c.*774C>T | ENSP00000466529.1:n.*774C>T | |
| ENST00000591292.5:n.2112C>T | ||
| ENST00000591392.5:c.711C>T | ENSP00000467509.1:p.Phe237= | |
| ENST00000592019.1:c.139C>T | ||
| NM_024589.2:c.783C>T , LRG_455t1:c.783C>T | NP_078865.1:p.Phe261= | |
| NR_046480.1:n.1107C>T | ||
| XM_006720947.2:c.804C>T | XP_006721010.1:p.Phe268= | |
| XM_006720948.2:c.534C>T | XP_006721011.1:p.Phe178= | |
| XM_006720947.4:c.804C>T | XP_006721010.1:p.Phe268= | |
| XM_006720948.4:c.534C>T | XP_006721011.1:p.Phe178= | |
| NM_024589.3:c.783C>T MANE Select | NP_078865.1:p.Phe261= | |
| NR_046480.2:n.790C>T |