Linked Data
ClinVar Variation Id:
1032500
ClinVar RCV Id:
RCV001334615
dbSNP Id:
rs755441595
ExAC:
2:138759652 C / T
gnomAD v2:
2-138759652-C-T
gnomAD v3:
2-138002082-C-T
gnomAD v4:
2-138002082-C-T
COSMIC:
COSM3117031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.138002082C>T , CM000664.2:g.138002082C>T | GRCh38 |
| NC_000002.11:g.138759652C>T , CM000664.1:g.138759652C>T | GRCh37 |
| NC_000002.10:g.138476122C>T | NCBI36 |
| NG_012966.1:g.42845C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280097.5:c.317C>T MANE Select | ENSP00000280097.3:p.Ser106Leu | |
| ENST00000280097.4:c.317C>T | ENSP00000280097.3:p.Ser106Leu | |
| ENST00000410115.5:c.317C>T | ENSP00000386940.1:p.Ser106Leu | |
| ENST00000467390.5:n.329C>T | ||
| ENST00000485653.1:n.249C>T | ||
| NM_006895.2:c.317C>T | NP_008826.1:p.Ser106Leu | |
| XM_011511063.1:c.215C>T | XP_011509365.1:p.Ser72Leu | |
| XM_011511064.1:c.-62C>T | XP_011509366.1:n.-62C>T | |
| XM_011511064.2:c.-62C>T | XP_011509366.1:n.-62C>T | |
| XM_017003948.1:c.215C>T | XP_016859437.1:p.Ser72Leu | |
| XM_017003949.2:c.317C>T | XP_016859438.1:p.Ser106Leu | |
| XR_001739719.1:n.1039+4907G>A | ||
| XR_002959286.1:n.704C>T | ||
| NM_006895.3:c.317C>T MANE Select | NP_008826.1:p.Ser106Leu |