Linked Data
ClinVar Variation Id:
553283
ClinVar RCV Id:
RCV000668695
dbSNP Id:
rs1452402269
gnomAD v2:
17-7128371-G-C
gnomAD v4:
17-7225052-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225052G>C , CM000679.2:g.7225052G>C | GRCh38 |
| NC_000017.10:g.7128371G>C , CM000679.1:g.7128371G>C | GRCh37 |
| NC_000017.9:g.7069095G>C | NCBI36 |
| NG_007975.1:g.10219G>C | |
| NG_033038.1:g.14493C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1923G>C MANE Select | ENSP00000349297.5:p.Leu641Phe | |
| ENST00000322910.9:c.*1878G>C | ENSP00000325395.5:n.*1878G>C | |
| ENST00000350303.9:c.1857G>C | ENSP00000344152.5:p.Leu619Phe | |
| ENST00000356839.9:c.1923G>C | ENSP00000349297.5:p.Leu641Phe | |
| ENST00000542255.6:c.802G>C | ||
| ENST00000543245.6:c.1992G>C | ENSP00000438689.2:p.Leu664Phe | |
| ENST00000578033.1:n.348G>C | ||
| ENST00000578319.5:n.504G>C | ||
| ENST00000578711.1:n.1548G>C | ||
| ENST00000578809.5:n.495G>C | ||
| ENST00000579425.5:n.1039G>C | ||
| ENST00000583848.5:c.289G>C | ENSP00000466487.1:n.289G>C | |
| ENST00000583850.5:n.694G>C | ||
| ENST00000583858.5:c.854G>C | ||
| NM_000018.3:c.1923G>C | NP_000009.1:p.Leu641Phe | |
| NM_001033859.2:c.1857G>C | NP_001029031.1:p.Leu619Phe | |
| NM_001270447.1:c.1992G>C | NP_001257376.1:p.Leu664Phe | |
| NM_001270448.1:c.1695G>C | NP_001257377.1:p.Leu565Phe | |
| XM_006721516.2:c.1944G>C | XP_006721579.2:p.Leu648Phe | |
| XM_011523829.1:c.1842G>C | XP_011522131.1:p.Leu614Phe | |
| XM_011523830.1:c.1821G>C | XP_011522132.1:p.Leu607Phe | |
| XR_934021.1:n.2026G>C | ||
| XR_934022.1:n.1932G>C | ||
| XR_934023.1:n.1953G>C | ||
| XM_006721516.3:c.1944G>C | XP_006721579.2:p.Leu648Phe | |
| XM_011523829.2:c.1842G>C | XP_011522131.1:p.Leu614Phe | |
| XM_011523830.2:c.1821G>C | XP_011522132.1:p.Leu607Phe | |
| XM_024450741.1:c.1911G>C | XP_024306509.1:p.Leu637Phe | |
| XR_934021.2:n.1978G>C | ||
| XR_934022.2:n.1884G>C | ||
| XR_934023.2:n.1905G>C | ||
| NM_000018.4:c.1923G>C MANE Select | NP_000009.1:p.Leu641Phe | |
| NM_001033859.3:c.1857G>C | NP_001029031.1:p.Leu619Phe | |
| NM_001270447.2:c.1992G>C | NP_001257376.1:p.Leu664Phe | |
| NM_001270448.2:c.1695G>C | NP_001257377.1:p.Leu565Phe |