Linked Data
ClinVar Variation Id:
379578
dbSNP Id:
rs1057520652
gnomAD v2:
16-3823913-G-A
gnomAD v4:
16-3773912-G-A
COSMIC:
COSM5622421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3773912G>A , CM000678.2:g.3773912G>A | GRCh38 |
| NC_000016.9:g.3823913G>A , CM000678.1:g.3823913G>A | GRCh37 |
| NC_000016.8:g.3763914G>A | NCBI36 |
| NG_009873.1:g.111209C>T | |
| NG_009873.2:g.111802C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.2302C>T MANE Select | ENSP00000262367.5:p.Arg768Ter | |
| ENST00000262367.9:c.2302C>T | ENSP00000262367.5:p.Arg768Ter | |
| ENST00000382070.7:c.2188C>T | ENSP00000371502.3:p.Arg730Ter | |
| ENST00000570939.2:c.907C>T | ENSP00000461002.2:p.Arg303Ter | |
| ENST00000571826.5:c.351C>T | ||
| ENST00000572134.1:c.570C>T | ||
| ENST00000575237.2:n.197C>T | ||
| NM_001079846.1:c.2188C>T | NP_001073315.1:p.Arg730Ter | |
| NM_004380.2:c.2302C>T | NP_004371.2:p.Arg768Ter | |
| XM_005255124.3:c.2257C>T | XP_005255181.1:p.Arg753Ter | |
| XM_005255125.3:c.2302C>T | XP_005255182.1:p.Arg768Ter | |
| XM_006720848.2:c.2302C>T | XP_006720911.1:p.Arg768Ter | |
| XM_011522380.1:c.2248C>T | XP_011520682.1:p.Arg750Ter | |
| XM_011522381.1:c.1549C>T | XP_011520683.1:p.Arg517Ter | |
| XM_011522382.1:c.2302C>T | XP_011520684.1:p.Arg768Ter | |
| XM_005255124.4:c.2257C>T | XP_005255181.1:p.Arg753Ter | |
| XM_005255125.4:c.2302C>T | XP_005255182.1:p.Arg768Ter | |
| XM_006720848.3:c.2302C>T | XP_006720911.1:p.Arg768Ter | |
| XM_011522381.2:c.1549C>T | XP_011520683.1:p.Arg517Ter | |
| XM_011522382.3:c.2302C>T | XP_011520684.1:p.Arg768Ter | |
| XM_017022944.1:c.2302C>T | XP_016878433.1:p.Arg768Ter | |
| NM_004380.3:c.2302C>T MANE Select | NP_004371.2:p.Arg768Ter |