Linked Data
ClinVar Variation Id:
438197
dbSNP Id:
rs930421180
gnomAD v2:
6-65301715-G-A
gnomAD v3:
6-64591822-G-A
gnomAD v4:
6-64591822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64591822G>A , CM000668.2:g.64591822G>A | GRCh38 |
| NC_000006.11:g.65301715G>A , CM000668.1:g.65301715G>A | GRCh37 |
| NC_000006.10:g.65358436G>A | NCBI36 |
| NG_023443.1:g.1120404C>T | |
| NG_023443.2:g.1120404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.4045C>T MANE Select | ENSP00000424243.1:p.Arg1349Ter | |
| ENST00000370616.6:c.4045C>T | ENSP00000359650.2:p.Arg1349Ter | |
| ENST00000370618.7:c.4045C>T | ENSP00000359652.4:p.Arg1349Ter | |
| ENST00000370621.7:c.4045C>T | ENSP00000359655.3:p.Arg1349Ter | |
| ENST00000503581.5:c.4045C>T | ENSP00000424243.1:p.Arg1349Ter | |
| NM_001142800.1:c.4045C>T | NP_001136272.1:p.Arg1349Ter | |
| NM_001292009.1:c.4045C>T | NP_001278938.1:p.Arg1349Ter | |
| NM_001142800.2:c.4045C>T MANE Select | NP_001136272.1:p.Arg1349Ter | |
| NM_001292009.2:c.4045C>T | NP_001278938.1:p.Arg1349Ter |