Linked Data
dbSNP Id:
rs760345410
ExAC:
15:68500581 G / A
gnomAD v2:
15-68500581-G-A
gnomAD v4:
15-68208243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208243G>A , CM000677.2:g.68208243G>A | GRCh38 |
| NC_000015.9:g.68500581G>A , CM000677.1:g.68500581G>A | GRCh37 |
| NC_000015.8:g.66287635G>A | NCBI36 |
| NG_008764.2:g.53969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.833C>T MANE Select | ENSP00000249806.5:p.Ala278Val | |
| ENST00000562767.2:c.84-10615C>T | ENSP00000456336.1:n.84-10615C>T | |
| ENST00000565471.6:c.374C>T | ENSP00000457384.1:p.Ala125Val | |
| ENST00000635747.1:c.*736C>T | ENSP00000490627.1:n.*736C>T | |
| ENST00000636212.1:c.*503C>T | ENSP00000489851.1:n.*503C>T | |
| ENST00000636674.1:n.1935C>T | ||
| ENST00000636964.1:n.2361C>T | ||
| ENST00000637054.1:c.198+10293C>T | ENSP00000490807.1:n.198+10293C>T | |
| ENST00000637329.1:c.802C>T | ||
| ENST00000637450.1:c.*487C>T | ENSP00000490204.1:n.*487C>T | |
| ENST00000637494.1:c.545C>T | ENSP00000490057.1:p.Ala182Val | |
| ENST00000637667.1:c.734C>T | ENSP00000489843.1:p.Ala245Val | |
| ENST00000637823.1:c.658C>T | ||
| ENST00000637888.1:c.198+10293C>T | ENSP00000490546.1:n.198+10293C>T | |
| ENST00000638076.1:c.*436C>T | ENSP00000490373.1:n.*436C>T | |
| ENST00000638144.1:n.476C>T | ||
| ENST00000646164.1:c.39-8562C>T | ||
| ENST00000249806.9:c.833C>T | ENSP00000249806.5:p.Ala278Val | |
| ENST00000538696.5:c.929C>T | ENSP00000445770.1:p.Ala310Val | |
| ENST00000562767.1:c.84-10615C>T | ENSP00000456336.1:n.84-10615C>T | |
| ENST00000565471.5:c.374C>T | ENSP00000457384.1:p.Ala125Val | |
| ENST00000566347.5:c.644C>T | ENSP00000457783.1:p.Ala215Val | |
| ENST00000567060.5:c.*231C>T | ENSP00000454818.1:n.*231C>T | |
| NM_017882.2:c.833C>T | NP_060352.1:p.Ala278Val | |
| NM_017882.3:c.833C>T MANE Select | NP_060352.1:p.Ala278Val |