Linked Data
ClinVar Variation Id:
195543
ClinVar RCV Id:
RCV000176130
RCV000540731
RCV000988507
RCV001103650
RCV002259707
RCV002505257
RCV002259706
RCV002262771
RCV004528937
dbSNP Id:
rs61910685
ExAC:
11:22296266 C / T
gnomAD v2:
11-22296266-C-T
gnomAD v3:
11-22274720-C-T
gnomAD v4:
11-22274720-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22274720C>T , CM000673.2:g.22274720C>T | GRCh38 |
| NC_000011.9:g.22296266C>T , CM000673.1:g.22296266C>T | GRCh37 |
| NC_000011.8:g.22252842C>T | NCBI36 |
| NG_015844.1:g.86545C>T , LRG_868:g.86545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.404C>T | ||
| ENST00000682266.1:c.1937C>T | ENSP00000507766.1:p.Ser646Leu | |
| ENST00000682341.1:c.2345C>T | ENSP00000508251.1:p.Ser782Leu | |
| ENST00000683197.1:c.2345C>T | ENSP00000507641.1:p.Ser782Leu | |
| ENST00000683411.1:c.1937C>T | ENSP00000508397.1:p.Ser646Leu | |
| ENST00000683437.1:c.1937C>T | ENSP00000508408.1:p.Ser646Leu | |
| ENST00000683613.1:n.3381C>T | ||
| ENST00000684663.1:c.2342C>T | ENSP00000508009.1:p.Ser781Leu | |
| ENST00000324559.9:c.2387C>T MANE Select | ENSP00000315371.9:p.Ser796Leu | |
| ENST00000648804.1:n.2722C>T | ||
| ENST00000324559.8:c.2387C>T | ENSP00000315371.8:p.Ser796Leu | |
| ENST00000532043.1:n.404C>T | ||
| NM_001142649.1:c.2384C>T | NP_001136121.1:p.Ser795Leu | |
| NM_213599.2:c.2387C>T , LRG_868t1:c.2387C>T | NP_998764.1:p.Ser796Leu | |
| XM_005252820.2:c.2345C>T | XP_005252877.2:p.Ser782Leu | |
| XM_005252821.2:c.2342C>T | XP_005252878.2:p.Ser781Leu | |
| XM_005252822.3:c.2309C>T | XP_005252879.1:p.Ser770Leu | |
| XM_005252823.3:c.2306C>T | XP_005252880.1:p.Ser769Leu | |
| XM_011519949.1:c.2294C>T | XP_011518251.1:p.Ser765Leu | |
| XM_005252820.3:c.2345C>T | XP_005252877.2:p.Ser782Leu | |
| XM_005252821.3:c.2342C>T | XP_005252878.2:p.Ser781Leu | |
| XM_005252822.4:c.2309C>T | XP_005252879.1:p.Ser770Leu | |
| XM_011519949.2:c.2294C>T | XP_011518251.1:p.Ser765Leu | |
| NM_001142649.2:c.2384C>T | NP_001136121.1:p.Ser795Leu | |
| NM_213599.3:c.2387C>T MANE Select | NP_998764.1:p.Ser796Leu |