Linked Data
ClinVar Variation Id:
126729
ClinVar RCV Id:
RCV000114612
RCV000160853
RCV000168017
RCV000212825
RCV001030644
RCV002307393
RCV002490767
RCV004528793
RCV003162531
RCV003315406
RCV003149788
dbSNP Id:
rs587776527
ExAC:
16:23619279 G / A
gnomAD v2:
16-23619279-G-A
gnomAD v4:
16-23607958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607958G>A , CM000678.2:g.23607958G>A | GRCh38 |
| NC_000016.9:g.23619279G>A , CM000678.1:g.23619279G>A | GRCh37 |
| NC_000016.8:g.23526780G>A | NCBI36 |
| NG_007406.1:g.38400C>T , LRG_308:g.38400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3262C>T | ENSP00000460666.3:p.Arg1088Ter | |
| ENST00000565038.2:c.*737C>T | ENSP00000459882.2:n.*737C>T | |
| ENST00000566069.6:c.3202-4289C>T | ENSP00000459237.2:n.3202-4289C>T | |
| ENST00000697377.2:c.3100C>T | ENSP00000513286.2:p.Arg1034Ter | |
| ENST00000697379.2:c.3262C>T | ENSP00000513287.2:p.Arg1088Ter | |
| ENST00000561514.2:c.2371C>T | ENSP00000460666.2:p.Arg791Ter | |
| ENST00000697374.1:c.2371C>T | ENSP00000513284.1:p.Arg791Ter | |
| ENST00000697375.1:n.4603C>T | ||
| ENST00000697376.1:c.2317-4289C>T | ENSP00000513285.1:n.2317-4289C>T | |
| ENST00000697377.1:c.2209C>T | ENSP00000513286.1:p.Arg737Ter | |
| ENST00000697378.1:n.3776C>T | ||
| ENST00000697379.1:c.2371C>T | ENSP00000513287.1:p.Arg791Ter | |
| ENST00000697380.1:n.2460C>T | ||
| ENST00000697381.1:n.1951C>T | ||
| ENST00000697382.1:c.*33C>T | ENSP00000513288.1:n.*33C>T | |
| ENST00000697383.1:c.790C>T | ENSP00000513289.1:p.Arg264Ter | |
| ENST00000261584.9:c.3256C>T MANE Select | ENSP00000261584.4:p.Arg1086Ter | |
| ENST00000261584.8:c.3256C>T | ENSP00000261584.4:p.Arg1086Ter | |
| ENST00000566069.5:c.117-4289C>T | ||
| ENST00000568219.5:c.2371C>T | ENSP00000454703.2:p.Arg791Ter | |
| NM_024675.3:c.3256C>T , LRG_308t1:c.3256C>T | NP_078951.2:p.Arg1086Ter | |
| XM_011545946.1:c.3262C>T | XP_011544248.1:p.Arg1088Ter | |
| XM_011545947.1:c.3208-4289C>T | XP_011544249.1:n.3208-4289C>T | |
| XM_011545948.1:c.2371C>T | XP_011544250.1:p.Arg791Ter | |
| XR_950851.1:n.3964C>T | ||
| XM_011545946.2:c.3262C>T | XP_011544248.1:p.Arg1088Ter | |
| XM_011545947.2:c.3208-4289C>T | XP_011544249.1:n.3208-4289C>T | |
| XM_011545948.2:c.2371C>T | XP_011544250.1:p.Arg791Ter | |
| XM_017023671.1:c.3120-4289C>T | XP_016879160.1:n.3120-4289C>T | |
| XM_017023672.2:c.3114-4289C>T | XP_016879161.1:n.3114-4289C>T | |
| XM_017023673.2:c.3202-4289C>T | XP_016879162.1:n.3202-4289C>T | |
| NM_024675.4:c.3256C>T MANE Select | NP_078951.2:p.Arg1086Ter |