Linked Data
ClinVar Variation Id:
447376
ClinVar RCV Id:
RCV000517024
dbSNP Id:
rs748132792
gnomAD v2:
14-55310740-T-A
gnomAD v4:
14-54844022-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54844022T>A , CM000676.2:g.54844022T>A | GRCh38 |
| NC_000014.8:g.55310740T>A , CM000676.1:g.55310740T>A | GRCh37 |
| NC_000014.7:g.54380490T>A | NCBI36 |
| NG_008647.1:g.63803A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.748A>T MANE Select | ENSP00000419045.2:p.Ser250Cys | |
| ENST00000254299.8:n.896A>T | ||
| ENST00000395514.5:c.748A>T | ENSP00000378890.1:p.Ser250Cys | |
| ENST00000395521.6:n.293-968A>T | ||
| ENST00000491895.6:c.748A>T | ENSP00000419045.2:p.Ser250Cys | |
| ENST00000536224.2:c.627-968A>T | ENSP00000445246.2:n.627-968A>T | |
| ENST00000543643.6:c.627-153A>T | ENSP00000444011.2:n.627-153A>T | |
| ENST00000622544.4:c.748A>T | ENSP00000477796.1:p.Ser250Cys | |
| NM_000161.2:c.748A>T | NP_000152.1:p.Ser250Cys | |
| NM_001024024.1:c.748A>T | NP_001019195.1:p.Ser250Cys | |
| NM_001024070.1:c.627-153A>T | NP_001019241.1:n.627-153A>T | |
| NM_001024071.1:c.627-968A>T | NP_001019242.1:n.627-968A>T | |
| XM_005267530.1:c.627-153A>T | XP_005267587.1:n.627-153A>T | |
| XM_017021218.1:c.454A>T | XP_016876707.1:p.Ser152Cys | |
| NM_000161.3:c.748A>T MANE Select | NP_000152.1:p.Ser250Cys | |
| NM_001024070.2:c.627-153A>T | NP_001019241.1:n.627-153A>T | |
| NM_001024071.2:c.627-968A>T | NP_001019242.1:n.627-968A>T | |
| NM_001024024.2:c.748A>T | NP_001019195.1:p.Ser250Cys |