Linked Data
ClinVar Variation Id:
2147517
ClinVar RCV Id:
RCV003077232
dbSNP Id:
rs558758367
ExAC:
15:68500625 G / A
gnomAD v2:
15-68500625-G-A
gnomAD v3:
15-68208287-G-A
gnomAD v4:
15-68208287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208287G>A , CM000677.2:g.68208287G>A | GRCh38 |
| NC_000015.9:g.68500625G>A , CM000677.1:g.68500625G>A | GRCh37 |
| NC_000015.8:g.66287679G>A | NCBI36 |
| NG_008764.2:g.53925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.789C>T MANE Select | ENSP00000249806.5:p.Phe263= | |
| ENST00000562767.2:c.84-10659C>T | ENSP00000456336.1:n.84-10659C>T | |
| ENST00000565471.6:c.330C>T | ENSP00000457384.1:p.Phe110= | |
| ENST00000635747.1:c.*692C>T | ENSP00000490627.1:n.*692C>T | |
| ENST00000636212.1:c.*459C>T | ENSP00000489851.1:n.*459C>T | |
| ENST00000636674.1:n.1891C>T | ||
| ENST00000636964.1:n.2317C>T | ||
| ENST00000637054.1:c.198+10249C>T | ENSP00000490807.1:n.198+10249C>T | |
| ENST00000637329.1:c.758C>T | ||
| ENST00000637450.1:c.*443C>T | ENSP00000490204.1:n.*443C>T | |
| ENST00000637494.1:c.501C>T | ENSP00000490057.1:p.Phe167= | |
| ENST00000637667.1:c.690C>T | ENSP00000489843.1:p.Phe230= | |
| ENST00000637823.1:c.614C>T | ||
| ENST00000637888.1:c.198+10249C>T | ENSP00000490546.1:n.198+10249C>T | |
| ENST00000638076.1:c.*392C>T | ENSP00000490373.1:n.*392C>T | |
| ENST00000638144.1:n.432C>T | ||
| ENST00000646164.1:c.39-8606C>T | ||
| ENST00000249806.9:c.789C>T | ENSP00000249806.5:p.Phe263= | |
| ENST00000538696.5:c.885C>T | ENSP00000445770.1:p.Phe295= | |
| ENST00000562767.1:c.84-10659C>T | ENSP00000456336.1:n.84-10659C>T | |
| ENST00000565471.5:c.330C>T | ENSP00000457384.1:p.Phe110= | |
| ENST00000566347.5:c.600C>T | ENSP00000457783.1:p.Phe200= | |
| ENST00000567060.5:c.*187C>T | ENSP00000454818.1:n.*187C>T | |
| NM_017882.2:c.789C>T | NP_060352.1:p.Phe263= | |
| NM_017882.3:c.789C>T MANE Select | NP_060352.1:p.Phe263= |