Linked Data
ClinVar Variation Id:
2046197
ClinVar RCV Id:
RCV002913515
dbSNP Id:
rs568249293
gnomAD v3:
4-88007972-C-T
gnomAD v4:
4-88007972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007972C>T , CM000666.2:g.88007972C>T | GRCh38 |
| NC_000004.11:g.88929124C>T , CM000666.1:g.88929124C>T | GRCh37 |
| NC_000004.10:g.89148148C>T | NCBI36 |
| NG_008604.1:g.5305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.239C>T MANE Select | ENSP00000237596.2:p.Ser80Leu | |
| ENST00000237596.6:c.239C>T | ENSP00000237596.2:p.Ser80Leu | |
| NM_000297.3:c.239C>T | NP_000288.1:p.Ser80Leu | |
| XM_011532028.1:c.239C>T | XP_011530330.1:p.Ser80Leu | |
| XR_244632.2:n.334C>T | ||
| NR_156488.1:n.326C>T | ||
| XM_011532028.2:c.239C>T | XP_011530330.1:p.Ser80Leu | |
| NM_000297.4:c.239C>T MANE Select | NP_000288.1:p.Ser80Leu | |
| NR_156488.2:n.338C>T |