Linked Data
ClinVar Variation Id:
2383244
ClinVar RCV Id:
RCV002689321
dbSNP Id:
rs752032294
ExAC:
1:41249959 C / T
gnomAD v2:
1-41249959-C-T
gnomAD v3:
1-40784287-C-T
gnomAD v4:
1-40784287-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784287C>T , CM000663.2:g.40784287C>T | GRCh38 |
| NC_000001.10:g.41249959C>T , CM000663.1:g.41249959C>T | GRCh37 |
| NC_000001.9:g.41022546C>T | NCBI36 |
| NG_008139.1:g.5276C>T | |
| NG_008139.2:g.5276C>T | |
| NG_008139.3:g.5501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.194C>T MANE Select | ENSP00000262916.6:p.Ser65Leu | |
| ENST00000347132.9:c.194C>T | ENSP00000262916.6:p.Ser65Leu | |
| ENST00000509682.6:c.194C>T | ENSP00000423756.2:p.Ser65Leu | |
| NM_004700.3:c.194C>T | NP_004691.2:p.Ser65Leu | |
| NM_172163.2:c.194C>T | NP_751895.1:p.Ser65Leu | |
| XM_011542417.1:c.194C>T | XP_011540719.1:p.Ser65Leu | |
| XM_011542418.1:c.194C>T | XP_011540720.1:p.Ser65Leu | |
| XM_011542419.1:c.194C>T | XP_011540721.1:p.Ser65Leu | |
| XM_011542420.1:c.194C>T | XP_011540722.1:p.Ser65Leu | |
| XR_946798.1:n.200C>T | ||
| XR_946799.1:n.200C>T | ||
| XR_946800.1:n.200C>T | ||
| NM_004700.4:c.194C>T MANE Select | NP_004691.2:p.Ser65Leu | |
| NM_172163.3:c.194C>T | NP_751895.1:p.Ser65Leu |