Linked Data
ClinVar Variation Id:
1353754
ClinVar RCV Id:
RCV001863583
dbSNP Id:
rs762287609
ExAC:
4:187130109 C / T
gnomAD v2:
4-187130109-C-T
gnomAD v4:
4-186208955-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208955C>T , CM000666.2:g.186208955C>T | GRCh38 |
| NC_000004.11:g.187130109C>T , CM000666.1:g.187130109C>T | GRCh37 |
| NC_000004.10:g.187367103C>T | NCBI36 |
| NG_007965.1:g.22436C>T | |
| NG_012095.2:g.4977C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1181C>T MANE Select | ENSP00000368079.4:p.Ser394Phe | |
| ENST00000378802.4:c.1181C>T | ENSP00000368079.4:p.Ser394Phe | |
| ENST00000502665.1:n.416C>T | ||
| ENST00000507209.5:n.5879C>T | ||
| ENST00000513354.5:n.271C>T | ||
| NM_207352.3:c.1181C>T | NP_997235.3:p.Ser394Phe | |
| XM_005262935.2:c.1181C>T | XP_005262992.1:p.Ser394Phe | |
| XM_006714184.2:c.785C>T | XP_006714247.1:p.Ser262Phe | |
| XM_005262935.4:c.1181C>T | XP_005262992.1:p.Ser394Phe | |
| XM_017008037.1:c.785C>T | XP_016863526.1:p.Ser262Phe | |
| NM_207352.4:c.1181C>T MANE Select | NP_997235.3:p.Ser394Phe |