Linked Data
ClinVar Variation Id:
1705159
ClinVar RCV Id:
RCV002281789
dbSNP Id:
rs1233423494
gnomAD v4:
4-177439578-G-A
COSMIC:
COSM4595696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439578G>A , CM000666.2:g.177439578G>A | GRCh38 |
| NC_000004.11:g.178360732G>A , CM000666.1:g.178360732G>A | GRCh37 |
| NC_000004.10:g.178597726G>A | NCBI36 |
| NG_011845.2:g.7926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.392C>T MANE Select | ENSP00000264595.2:p.Ser131Leu | |
| ENST00000264595.6:c.392C>T | ENSP00000264595.2:p.Ser131Leu | |
| ENST00000502310.5:c.47C>T | ENSP00000423798.1:p.Ser16Leu | |
| ENST00000506853.5:n.426C>T | ||
| ENST00000510635.1:c.88C>T | ||
| ENST00000510955.5:n.315+695C>T | ||
| NM_000027.3:c.392C>T | NP_000018.2:p.Ser131Leu | |
| NM_001171988.1:c.392C>T | NP_001165459.1:p.Ser131Leu | |
| NR_033655.1:n.520C>T | ||
| XM_006714123.2:c.392C>T | XP_006714186.1:p.Ser131Leu | |
| XR_001741155.2:n.486C>T | ||
| NM_000027.4:c.392C>T MANE Select | NP_000018.2:p.Ser131Leu | |
| NM_001171988.2:c.392C>T | NP_001165459.1:p.Ser131Leu | |
| NR_033655.2:n.454C>T |