Linked Data
ClinVar Variation Id:
18369
ClinVar RCV Id:
RCV000020037
dbSNP Id:
rs121909506
ExAC:
2:233393011 T / C
gnomAD v2:
2-233393011-T-C
gnomAD v3:
2-232528301-T-C
gnomAD v4:
2-232528301-T-C
PubMed:
PMID:18252226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232528301T>C , CM000664.2:g.232528301T>C | GRCh38 |
| NC_000002.11:g.233393011T>C , CM000664.1:g.233393011T>C | GRCh37 |
| NC_000002.10:g.233101255T>C | NCBI36 |
| NG_008028.1:g.7090T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258385.8:c.283T>C MANE Select | ENSP00000258385.3:p.Phe95Leu | |
| ENST00000258385.7:c.283T>C | ENSP00000258385.3:p.Phe95Leu | |
| ENST00000412233.5:c.283T>C | ENSP00000398143.1:p.Phe95Leu | |
| ENST00000441621.6:c.283T>C | ENSP00000408819.2:p.Phe95Leu | |
| ENST00000446616.1:c.283T>C | ENSP00000410801.1:p.Phe95Leu | |
| ENST00000449596.5:c.238T>C | ENSP00000404950.1:p.Phe80Leu | |
| ENST00000543200.5:c.238T>C | ENSP00000438380.1:p.Phe80Leu | |
| NM_000751.2:c.283T>C | NP_000742.1:p.Phe95Leu | |
| NM_001256657.1:c.238T>C | NP_001243586.1:p.Phe80Leu | |
| NM_001311195.1:c.12T>C | NP_001298124.1:p.Asn4= | |
| NM_001311196.1:c.12T>C | NP_001298125.1:p.Asn4= | |
| NR_046333.1:c.-4294966957T>C | ||
| NR_046334.1:c.-4294966957T>C | ||
| XM_011510524.1:c.12T>C | XP_011508826.1:p.Asn4= | |
| XM_011510524.2:c.12T>C | XP_011508826.1:p.Asn4= | |
| NM_000751.3:c.283T>C MANE Select | NP_000742.1:p.Phe95Leu | |
| NM_001311195.2:c.12T>C | NP_001298124.1:p.Asn4= | |
| NM_001311196.2:c.12T>C | NP_001298125.1:p.Asn4= | |
| NM_001256657.2:c.238T>C | NP_001243586.1:p.Phe80Leu |