Linked Data
ClinVar Variation Id:
1530572
ClinVar RCV Id:
RCV002082412
dbSNP Id:
rs777075473
ExAC:
5:7885846 C / T
gnomAD v2:
5-7885846-C-T
gnomAD v3:
5-7885733-C-T
gnomAD v4:
5-7885733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7885733C>T , CM000667.2:g.7885733C>T | GRCh38 |
| NC_000005.9:g.7885846C>T , CM000667.1:g.7885846C>T | GRCh37 |
| NC_000005.8:g.7938846C>T | NCBI36 |
| NG_008856.1:g.21630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.936C>T MANE Select | ENSP00000402510.2:p.Ala312= | |
| ENST00000264668.6:c.1017C>T | ENSP00000264668.2:p.Ala339= | |
| ENST00000440940.6:c.936C>T | ENSP00000402510.2:p.Ala312= | |
| ENST00000508101.5:n.176C>T | ||
| ENST00000510525.5:c.961C>T | ||
| ENST00000511461.5:c.849C>T | ||
| ENST00000513439.5:c.*643C>T | ENSP00000426710.1:n.*643C>T | |
| NM_002454.2:c.936C>T | NP_002445.2:p.Ala312= | |
| NM_024010.2:c.1017C>T | NP_076915.2:p.Ala339= | |
| XM_006714474.2:c.1017C>T | XP_006714537.1:p.Ala339= | |
| XM_011514043.1:c.1017C>T | XP_011512345.1:p.Ala339= | |
| XM_011514044.1:c.936C>T | XP_011512346.1:p.Ala312= | |
| XM_011514045.1:c.1157C>T | XP_011512347.1:p.Pro386Leu | |
| XR_241702.1:n.1039C>T | ||
| XR_241703.1:n.1032C>T | ||
| XR_925614.1:n.1039C>T | ||
| XR_925615.1:n.1039C>T | ||
| NM_001364440.1:c.936C>T | NP_001351369.1:p.Ala312= | |
| NM_001364441.1:c.936C>T | NP_001351370.1:p.Ala312= | |
| NM_001364442.1:c.936C>T | NP_001351371.1:p.Ala312= | |
| NM_024010.3:c.936C>T | NP_076915.3:p.Ala312= | |
| NR_134480.1:n.1059C>T | ||
| NR_134481.1:n.1073C>T | ||
| NR_134482.1:n.919C>T | ||
| NR_157168.1:n.989C>T | ||
| NR_157169.1:n.849C>T | ||
| NR_157170.1:n.1015C>T | ||
| NR_157171.1:n.849C>T | ||
| NR_157172.1:n.875C>T | ||
| NR_157173.1:n.1003C>T | ||
| NR_157174.1:n.875C>T | ||
| NR_157175.1:n.1029C>T | ||
| NR_157176.1:n.1169C>T | ||
| NR_157177.1:n.1024C>T | ||
| NR_157178.1:n.1029C>T | ||
| XM_024446063.1:c.981C>T | XP_024301831.1:p.Ala327= | |
| XM_024446064.1:c.936C>T | XP_024301832.1:p.Ala312= | |
| XR_001742071.1:n.1039C>T | ||
| XR_001742072.1:n.1039C>T | ||
| XR_001742074.1:n.1039C>T | ||
| XR_001742075.1:n.1039C>T | ||
| XR_001742076.1:n.1179C>T | ||
| XR_001742077.1:n.1179C>T | ||
| NM_001364440.2:c.936C>T | NP_001351369.1:p.Ala312= | |
| NM_001364441.2:c.936C>T | NP_001351370.1:p.Ala312= | |
| NM_001364442.2:c.936C>T | NP_001351371.1:p.Ala312= | |
| NM_002454.3:c.936C>T MANE Select | NP_002445.2:p.Ala312= | |
| NM_024010.4:c.936C>T | NP_076915.3:p.Ala312= | |
| NR_134480.2:n.1015C>T | ||
| NR_134481.2:n.1029C>T | ||
| NR_134482.2:n.875C>T | ||
| NR_157168.2:n.989C>T | ||
| NR_157169.2:n.849C>T | ||
| NR_157170.2:n.1015C>T | ||
| NR_157171.2:n.849C>T | ||
| NR_157172.2:n.875C>T | ||
| NR_157173.2:n.1003C>T | ||
| NR_157174.2:n.875C>T | ||
| NR_157175.2:n.1029C>T | ||
| NR_157176.2:n.1169C>T | ||
| NR_157177.2:n.1024C>T | ||
| NR_157178.2:n.1029C>T |