Linked Data
ClinVar Variation Id:
1583779
ClinVar RCV Id:
RCV002099997
dbSNP Id:
rs767265467
gnomAD v2:
2-241813414-G-T
gnomAD v4:
2-240873997-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873997G>T , CM000664.2:g.240873997G>T | GRCh38 |
| NC_000002.11:g.241813414G>T , CM000664.1:g.241813414G>T | GRCh37 |
| NC_000002.10:g.241462087G>T | NCBI36 |
| NG_008005.1:g.10253G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.615G>T MANE Select | ENSP00000302620.3:p.Ser205= | |
| ENST00000307503.3:c.615G>T | ENSP00000302620.3:p.Ser205= | |
| ENST00000476698.1:n.332+948G>T | ||
| NM_000030.2:c.615G>T | NP_000021.1:p.Ser205= | |
| NM_000030.3:c.615G>T MANE Select | NP_000021.1:p.Ser205= |