Linked Data
dbSNP Id:
rs773413931
ExAC:
1:202097503 C / T
gnomAD v2:
1-202097503-C-T
gnomAD v3:
1-202128375-C-T
gnomAD v4:
1-202128375-C-T
COSMIC:
COSM1668373
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128375C>T , CM000663.2:g.202128375C>T | GRCh38 |
| NC_000001.10:g.202097503C>T , CM000663.1:g.202097503C>T | GRCh37 |
| NC_000001.9:g.200364126C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.846C>T | ||
| ENST00000682545.1:c.*271C>T | ENSP00000508402.1:n.*271C>T | |
| ENST00000682887.1:c.1666C>T | ENSP00000506946.1:n.1666C>T | |
| ENST00000683302.1:c.1196C>T | ENSP00000507885.1:p.Pro399Leu | |
| ENST00000683557.1:c.*97C>T | ENSP00000508029.1:n.*97C>T | |
| ENST00000367282.6:c.1265C>T MANE Select | ENSP00000356251.4:p.Pro422Leu | |
| ENST00000367282.5:c.1265C>T | ENSP00000356251.4:p.Pro422Leu | |
| NM_004767.3:c.1265C>T | NP_004758.3:p.Pro422Leu | |
| XM_011510158.1:c.704C>T | XP_011508460.1:p.Pro235Leu | |
| NM_004767.4:c.1265C>T | NP_004758.3:p.Pro422Leu | |
| XM_011510158.2:c.704C>T | XP_011508460.1:p.Pro235Leu | |
| NM_004767.5:c.1265C>T MANE Select | NP_004758.3:p.Pro422Leu |