Linked Data
ClinVar Variation Id:
1632
dbSNP Id:
rs118204017
gnomAD v2:
17-7127326-T-C
gnomAD v3:
17-7224007-T-C
gnomAD v4:
17-7224007-T-C
ERepo:
CA251907/MONDO:0008723/021
PubMed:
PMID:9709714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224007T>C , CM000679.2:g.7224007T>C | GRCh38 |
| NC_000017.10:g.7127326T>C , CM000679.1:g.7127326T>C | GRCh37 |
| NC_000017.9:g.7068050T>C | NCBI36 |
| NG_007975.1:g.9174T>C | |
| NG_008391.2:g.1044A>G | |
| NG_033038.1:g.15538A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1372T>C MANE Select | ENSP00000349297.5:p.Phe458Leu | |
| ENST00000322910.9:c.*1327T>C | ENSP00000325395.5:n.*1327T>C | |
| ENST00000350303.9:c.1306T>C | ENSP00000344152.5:p.Phe436Leu | |
| ENST00000356839.9:c.1372T>C | ENSP00000349297.5:p.Phe458Leu | |
| ENST00000542255.6:c.230T>C | ||
| ENST00000543245.6:c.1441T>C | ENSP00000438689.2:p.Phe481Leu | |
| ENST00000578711.1:n.503T>C | ||
| ENST00000579425.5:n.488T>C | ||
| ENST00000579546.1:c.209T>C | ||
| ENST00000579894.5:n.83T>C | ||
| ENST00000583074.5:n.91T>C | ||
| ENST00000583850.5:n.147T>C | ||
| ENST00000583858.5:c.401T>C | ||
| ENST00000585203.6:n.563T>C | ||
| NM_000018.3:c.1372T>C | NP_000009.1:p.Phe458Leu | |
| NM_001033859.2:c.1306T>C | NP_001029031.1:p.Phe436Leu | |
| NM_001270447.1:c.1441T>C | NP_001257376.1:p.Phe481Leu | |
| NM_001270448.1:c.1144T>C | NP_001257377.1:p.Phe382Leu | |
| XM_006721516.2:c.1372T>C | XP_006721579.2:p.Phe458Leu | |
| XM_011523829.1:c.1372T>C | XP_011522131.1:p.Phe458Leu | |
| XM_011523830.1:c.1372T>C | XP_011522132.1:p.Phe458Leu | |
| XR_934021.1:n.1479T>C | ||
| XR_934022.1:n.1479T>C | ||
| XR_934023.1:n.1479T>C | ||
| XM_006721516.3:c.1372T>C | XP_006721579.2:p.Phe458Leu | |
| XM_011523829.2:c.1372T>C | XP_011522131.1:p.Phe458Leu | |
| XM_011523830.2:c.1372T>C | XP_011522132.1:p.Phe458Leu | |
| XM_024450741.1:c.1372T>C | XP_024306509.1:p.Phe458Leu | |
| XR_934021.2:n.1431T>C | ||
| XR_934022.2:n.1431T>C | ||
| XR_934023.2:n.1431T>C | ||
| NM_000018.4:c.1372T>C MANE Select | NP_000009.1:p.Phe458Leu | |
| NM_001033859.3:c.1306T>C | NP_001029031.1:p.Phe436Leu | |
| NM_001270447.2:c.1441T>C | NP_001257376.1:p.Phe481Leu | |
| NM_001270448.2:c.1144T>C | NP_001257377.1:p.Phe382Leu |