Linked Data
ClinVar Variation Id:
204100
ClinVar RCV Id:
RCV000186306
dbSNP Id:
rs180177217
gnomAD v4:
2-240870708-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240870708G>T , CM000664.2:g.240870708G>T | GRCh38 |
| NC_000002.11:g.241810125G>T , CM000664.1:g.241810125G>T | GRCh37 |
| NC_000002.10:g.241458798G>T | NCBI36 |
| NG_008005.1:g.6964G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.423G>T MANE Select | ENSP00000302620.3:p.Glu141Asp | |
| ENST00000307503.3:c.423G>T | ENSP00000302620.3:p.Glu141Asp | |
| ENST00000472436.1:n.443G>T | ||
| NM_000030.2:c.423G>T | NP_000021.1:p.Glu141Asp | |
| NM_000030.3:c.423G>T MANE Select | NP_000021.1:p.Glu141Asp |