Linked Data
dbSNP Id:
rs374744816
ExAC:
15:68500736 G / T
gnomAD v2:
15-68500736-G-T
gnomAD v4:
15-68208398-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208398G>T , CM000677.2:g.68208398G>T | GRCh38 |
| NC_000015.9:g.68500736G>T , CM000677.1:g.68500736G>T | GRCh37 |
| NC_000015.8:g.66287790G>T | NCBI36 |
| NG_008764.2:g.53814C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.678C>A MANE Select | ENSP00000249806.5:p.Thr226= | |
| ENST00000562767.2:c.84-10770C>A | ENSP00000456336.1:n.84-10770C>A | |
| ENST00000563917.2:n.520C>A | ||
| ENST00000565471.6:c.219C>A | ENSP00000457384.1:p.Thr73= | |
| ENST00000635747.1:c.*581C>A | ENSP00000490627.1:n.*581C>A | |
| ENST00000636212.1:c.*348C>A | ENSP00000489851.1:n.*348C>A | |
| ENST00000636674.1:n.1780C>A | ||
| ENST00000636964.1:n.2206C>A | ||
| ENST00000637054.1:c.198+10138C>A | ENSP00000490807.1:n.198+10138C>A | |
| ENST00000637329.1:c.647C>A | ||
| ENST00000637450.1:c.*332C>A | ENSP00000490204.1:n.*332C>A | |
| ENST00000637494.1:c.390C>A | ENSP00000490057.1:p.Thr130= | |
| ENST00000637667.1:c.579C>A | ENSP00000489843.1:p.Thr193= | |
| ENST00000637823.1:c.503C>A | ||
| ENST00000637888.1:c.198+10138C>A | ENSP00000490546.1:n.198+10138C>A | |
| ENST00000638076.1:c.*281C>A | ENSP00000490373.1:n.*281C>A | |
| ENST00000638144.1:n.321C>A | ||
| ENST00000646164.1:c.39-8717C>A | ||
| ENST00000249806.9:c.678C>A | ENSP00000249806.5:p.Thr226= | |
| ENST00000538696.5:c.774C>A | ENSP00000445770.1:p.Thr258= | |
| ENST00000562767.1:c.84-10770C>A | ENSP00000456336.1:n.84-10770C>A | |
| ENST00000564752.1:c.*62C>A | ENSP00000457822.1:n.*62C>A | |
| ENST00000565471.5:c.219C>A | ENSP00000457384.1:p.Thr73= | |
| ENST00000566347.5:c.489C>A | ENSP00000457783.1:p.Thr163= | |
| ENST00000567060.5:c.*76C>A | ENSP00000454818.1:n.*76C>A | |
| NM_017882.2:c.678C>A | NP_060352.1:p.Thr226= | |
| XR_931861.1:n.900C>A | ||
| NM_017882.3:c.678C>A MANE Select | NP_060352.1:p.Thr226= |