Linked Data
ClinVar Variation Id:
102881
dbSNP Id:
rs62507327
gnomAD v4:
12-102851735-C-G
ERepo:
CA229828/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851735C>G , CM000674.2:g.102851735C>G | GRCh38 |
| NC_000012.11:g.103245513C>G , CM000674.1:g.103245513C>G | GRCh37 |
| NC_000012.10:g.101769643C>G | NCBI36 |
| NG_008690.1:g.70868G>C | |
| NG_008690.2:g.111676G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.864G>C MANE Select | ENSP00000448059.1:p.Leu288Phe | |
| ENST00000307000.7:c.849G>C | ENSP00000303500.2:p.Leu283Phe | |
| ENST00000549247.6:n.623G>C | ||
| ENST00000551114.2:n.526G>C | ||
| ENST00000553106.5:c.864G>C | ENSP00000448059.1:p.Leu288Phe | |
| ENST00000635477.1:c.25G>C | ||
| NM_000277.1:c.864G>C | NP_000268.1:p.Leu288Phe | |
| XM_011538422.1:c.864G>C | XP_011536724.1:p.Leu288Phe | |
| NM_000277.2:c.864G>C | NP_000268.1:p.Leu288Phe | |
| NM_001354304.1:c.864G>C | NP_001341233.1:p.Leu288Phe | |
| NM_000277.3:c.864G>C MANE Select | NP_000268.1:p.Leu288Phe | |
| NM_001354304.2:c.864G>C | NP_001341233.1:p.Leu288Phe |