Linked Data
ClinVar Variation Id:
983727
ClinVar RCV Id:
RCV001263730
dbSNP Id:
rs2058978388
gnomAD v4:
2-240869256-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869256T>A , CM000664.2:g.240869256T>A | GRCh38 |
| NC_000002.11:g.241808673T>A , CM000664.1:g.241808673T>A | GRCh37 |
| NC_000002.10:g.241457346T>A | NCBI36 |
| NG_008005.1:g.5512T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.252T>A MANE Select | ENSP00000302620.3:p.Cys84Ter | |
| ENST00000307503.3:c.252T>A | ENSP00000302620.3:p.Cys84Ter | |
| ENST00000472436.1:n.272T>A | ||
| NM_000030.2:c.252T>A | NP_000021.1:p.Cys84Ter | |
| XR_924060.1:n.405+977A>T | ||
| NM_000030.3:c.252T>A MANE Select | NP_000021.1:p.Cys84Ter |