Linked Data
ClinVar Variation Id:
217754
dbSNP Id:
rs863225243
gnomAD v4:
5-141528456-G-A
PubMed:
PMID:26463574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141528456G>A , CM000667.2:g.141528456G>A | GRCh38 |
| NC_000005.9:g.140908023G>A , CM000667.1:g.140908023G>A | GRCh37 |
| NC_000005.8:g.140888207G>A | NCBI36 |
| NG_011594.1:g.95600C>T | |
| NG_011594.2:g.95600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.3145C>T MANE Select | ENSP00000373706.4:p.Arg1049Ter | |
| ENST00000647433.1:c.3145C>T | ENSP00000494675.1:p.Arg1049Ter | |
| ENST00000253811.10:c.3013C>T | ENSP00000253811.7:p.Arg1005Ter | |
| ENST00000389054.7:c.3145C>T | ENSP00000373706.4:p.Arg1049Ter | |
| ENST00000389057.9:c.3118C>T | ENSP00000373709.6:p.Arg1040Ter | |
| ENST00000398557.8:c.3145C>T | ENSP00000381565.5:p.Arg1049Ter | |
| ENST00000518047.5:c.3118C>T | ENSP00000428268.2:p.Arg1040Ter | |
| NM_001079812.2:c.3118C>T | NP_001073280.1:p.Arg1040Ter | |
| NM_001314007.1:c.3145C>T | NP_001300936.1:p.Arg1049Ter | |
| NM_005219.4:c.3145C>T | NP_005210.3:p.Arg1049Ter | |
| XM_011537572.1:c.3109C>T | XP_011535874.1:p.Arg1037Ter | |
| XM_011537573.1:c.3079C>T | XP_011535875.1:p.Arg1027Ter | |
| XM_024454384.1:c.3145C>T | XP_024310152.1:p.Arg1049Ter | |
| XM_024454385.1:c.3118C>T | XP_024310153.1:p.Arg1040Ter | |
| XM_024454386.1:c.3109C>T | XP_024310154.1:p.Arg1037Ter | |
| XM_024454387.1:c.3079C>T | XP_024310155.1:p.Arg1027Ter | |
| NM_005219.5:c.3145C>T MANE Select | NP_005210.3:p.Arg1049Ter | |
| NM_001079812.3:c.3118C>T | NP_001073280.1:p.Arg1040Ter | |
| NM_001314007.2:c.3145C>T | NP_001300936.1:p.Arg1049Ter |