Linked Data
ClinVar Variation Id:
674311
dbSNP Id:
rs146653620
ExAC:
3:191093001 C / T
gnomAD v2:
3-191093001-C-T
gnomAD v3:
3-191375212-C-T
gnomAD v4:
3-191375212-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375212C>T , CM000665.2:g.191375212C>T | GRCh38 |
| NC_000003.11:g.191093001C>T , CM000665.1:g.191093001C>T | GRCh37 |
| NC_000003.10:g.192575695C>T | NCBI36 |
| NG_008994.1:g.51128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.599C>T MANE Select | ENSP00000376249.4:p.Ser200Leu | |
| ENST00000392456.4:c.449-4947C>T | ENSP00000376250.4:n.449-4947C>T | |
| ENST00000392455.7:c.449-4947C>T | ENSP00000376249.3:n.449-4947C>T | |
| ENST00000392456.3:c.599C>T | ENSP00000376250.3:p.Ser200Leu | |
| NM_174908.3:c.449-4947C>T | NP_777568.1:n.449-4947C>T | |
| NM_178335.2:c.599C>T | NP_848018.1:p.Ser200Leu | |
| XM_011512460.1:c.599C>T | XP_011510762.1:p.Ser200Leu | |
| NM_178335.3:c.599C>T MANE Select | NP_848018.1:p.Ser200Leu | |
| NM_174908.4:c.449-4947C>T | NP_777568.1:n.449-4947C>T |