Linked Data
ClinVar Variation Id:
745196
ClinVar RCV Id:
RCV000921706
dbSNP Id:
rs1475861942
gnomAD v2:
5-7885849-C-T
gnomAD v4:
5-7885736-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7885736C>T , CM000667.2:g.7885736C>T | GRCh38 |
| NC_000005.9:g.7885849C>T , CM000667.1:g.7885849C>T | GRCh37 |
| NC_000005.8:g.7938849C>T | NCBI36 |
| NG_008856.1:g.21633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.939C>T MANE Select | ENSP00000402510.2:p.Phe313= | |
| ENST00000264668.6:c.1020C>T | ENSP00000264668.2:p.Phe340= | |
| ENST00000440940.6:c.939C>T | ENSP00000402510.2:p.Phe313= | |
| ENST00000508101.5:n.179C>T | ||
| ENST00000510525.5:c.964C>T | ||
| ENST00000511461.5:c.852C>T | ||
| ENST00000513439.5:c.*646C>T | ENSP00000426710.1:n.*646C>T | |
| NM_002454.2:c.939C>T | NP_002445.2:p.Phe313= | |
| NM_024010.2:c.1020C>T | NP_076915.2:p.Phe340= | |
| XM_006714474.2:c.1020C>T | XP_006714537.1:p.Phe340= | |
| XM_011514043.1:c.1020C>T | XP_011512345.1:p.Phe340= | |
| XM_011514044.1:c.939C>T | XP_011512346.1:p.Phe313= | |
| XM_011514045.1:c.1160C>T | XP_011512347.1:p.Ser387Leu | |
| XR_241702.1:n.1042C>T | ||
| XR_241703.1:n.1035C>T | ||
| XR_925614.1:n.1042C>T | ||
| XR_925615.1:n.1042C>T | ||
| NM_001364440.1:c.939C>T | NP_001351369.1:p.Phe313= | |
| NM_001364441.1:c.939C>T | NP_001351370.1:p.Phe313= | |
| NM_001364442.1:c.939C>T | NP_001351371.1:p.Phe313= | |
| NM_024010.3:c.939C>T | NP_076915.3:p.Phe313= | |
| NR_134480.1:n.1062C>T | ||
| NR_134481.1:n.1076C>T | ||
| NR_134482.1:n.922C>T | ||
| NR_157168.1:n.992C>T | ||
| NR_157169.1:n.852C>T | ||
| NR_157170.1:n.1018C>T | ||
| NR_157171.1:n.852C>T | ||
| NR_157172.1:n.878C>T | ||
| NR_157173.1:n.1006C>T | ||
| NR_157174.1:n.878C>T | ||
| NR_157175.1:n.1032C>T | ||
| NR_157176.1:n.1172C>T | ||
| NR_157177.1:n.1027C>T | ||
| NR_157178.1:n.1032C>T | ||
| XM_024446063.1:c.984C>T | XP_024301831.1:p.Phe328= | |
| XM_024446064.1:c.939C>T | XP_024301832.1:p.Phe313= | |
| XR_001742071.1:n.1042C>T | ||
| XR_001742072.1:n.1042C>T | ||
| XR_001742074.1:n.1042C>T | ||
| XR_001742075.1:n.1042C>T | ||
| XR_001742076.1:n.1182C>T | ||
| XR_001742077.1:n.1182C>T | ||
| NM_001364440.2:c.939C>T | NP_001351369.1:p.Phe313= | |
| NM_001364441.2:c.939C>T | NP_001351370.1:p.Phe313= | |
| NM_001364442.2:c.939C>T | NP_001351371.1:p.Phe313= | |
| NM_002454.3:c.939C>T MANE Select | NP_002445.2:p.Phe313= | |
| NM_024010.4:c.939C>T | NP_076915.3:p.Phe313= | |
| NR_134480.2:n.1018C>T | ||
| NR_134481.2:n.1032C>T | ||
| NR_134482.2:n.878C>T | ||
| NR_157168.2:n.992C>T | ||
| NR_157169.2:n.852C>T | ||
| NR_157170.2:n.1018C>T | ||
| NR_157171.2:n.852C>T | ||
| NR_157172.2:n.878C>T | ||
| NR_157173.2:n.1006C>T | ||
| NR_157174.2:n.878C>T | ||
| NR_157175.2:n.1032C>T | ||
| NR_157176.2:n.1172C>T | ||
| NR_157177.2:n.1027C>T | ||
| NR_157178.2:n.1032C>T |