Linked Data
ClinVar Variation Id:
2340332
ClinVar RCV Id:
RCV004183157
dbSNP Id:
rs750543849
ExAC:
7:150171154 C / T
gnomAD v2:
7-150171154-C-T
gnomAD v3:
7-150474066-C-T
gnomAD v4:
7-150474066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150474066C>T , CM000669.2:g.150474066C>T | GRCh38 |
| NC_000007.13:g.150171154C>T , CM000669.1:g.150171154C>T | GRCh37 |
| NC_000007.12:g.149802087C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307271.4:c.737C>T MANE Select | ENSP00000305107.3:p.Ser246Leu | |
| ENST00000307271.3:c.737C>T | ENSP00000305107.3:p.Ser246Leu | |
| NM_175571.3:c.737C>T | NP_783161.1:p.Ser246Leu | |
| XM_005249950.3:c.737C>T | XP_005250007.1:p.Ser246Leu | |
| XM_005249951.2:c.683-3026C>T | XP_005250008.1:n.683-3026C>T | |
| XM_005249950.4:c.737C>T | XP_005250007.1:p.Ser246Leu | |
| XM_005249951.4:c.683-3026C>T | XP_005250008.1:n.683-3026C>T | |
| NM_175571.4:c.737C>T MANE Select | NP_783161.1:p.Ser246Leu |