Linked Data
ClinVar Variation Id:
224318
dbSNP Id:
rs886037779
gnomAD v2:
6-42946235-G-C
gnomAD v4:
6-42978497-G-C
PubMed:
PMID:27302843
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42978497G>C , CM000668.2:g.42978497G>C | GRCh38 |
| NC_000006.11:g.42946235G>C , CM000668.1:g.42946235G>C | GRCh37 |
| NC_000006.10:g.43054213G>C | NCBI36 |
| NG_008370.1:g.5747C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.654C>G MANE Select | ENSP00000303511.8:p.Phe218Leu | |
| ENST00000244546.4:c.654C>G | ENSP00000244546.4:p.Phe218Leu | |
| ENST00000304611.12:c.654C>G | ENSP00000303511.8:p.Phe218Leu | |
| NM_000287.3:c.654C>G | NP_000278.3:p.Phe218Leu | |
| NM_001316313.1:c.618+36C>G | NP_001303242.1:n.618+36C>G | |
| NR_133009.1:n.747C>G | ||
| XM_011514661.1:c.654C>G | XP_011512963.1:p.Phe218Leu | |
| XR_926246.1:n.747C>G | ||
| XM_011514661.2:c.654C>G | XP_011512963.1:p.Phe218Leu | |
| XR_001743466.2:n.1728C>G | ||
| NM_000287.4:c.654C>G MANE Select | NP_000278.3:p.Phe218Leu | |
| NM_001316313.2:c.618+36C>G | NP_001303242.1:n.618+36C>G | |
| NR_133009.2:n.685C>G |