Linked Data
ClinVar Variation Id:
2937916
ClinVar RCV Id:
RCV003796738
dbSNP Id:
rs2039600418
gnomAD v4:
14-54844020-G-A
MyVariant Identifiers:
chr14:g.55310738G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54844020G>A , CM000676.2:g.54844020G>A | GRCh38 |
| NC_000014.8:g.55310738G>A , CM000676.1:g.55310738G>A | GRCh37 |
| NC_000014.7:g.54380488G>A | NCBI36 |
| NG_008647.1:g.63805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.750C>T MANE Select | ENSP00000419045.2:p.Ser250= | |
| ENST00000254299.8:n.898C>T | ||
| ENST00000395514.5:c.750C>T | ENSP00000378890.1:p.Ser250= | |
| ENST00000395521.6:n.293-966C>T | ||
| ENST00000491895.6:c.750C>T | ENSP00000419045.2:p.Ser250= | |
| ENST00000536224.2:c.627-966C>T | ENSP00000445246.2:n.627-966C>T | |
| ENST00000543643.6:c.627-151C>T | ENSP00000444011.2:n.627-151C>T | |
| ENST00000622544.4:c.750C>T | ENSP00000477796.1:p.Ser250= | |
| NM_000161.2:c.750C>T | NP_000152.1:p.Ser250= | |
| NM_001024024.1:c.750C>T | NP_001019195.1:p.Ser250= | |
| NM_001024070.1:c.627-151C>T | NP_001019241.1:n.627-151C>T | |
| NM_001024071.1:c.627-966C>T | NP_001019242.1:n.627-966C>T | |
| XM_005267530.1:c.627-151C>T | XP_005267587.1:n.627-151C>T | |
| XM_017021218.1:c.456C>T | XP_016876707.1:p.Ser152= | |
| NM_000161.3:c.750C>T MANE Select | NP_000152.1:p.Ser250= | |
| NM_001024070.2:c.627-151C>T | NP_001019241.1:n.627-151C>T | |
| NM_001024071.2:c.627-966C>T | NP_001019242.1:n.627-966C>T | |
| NM_001024024.2:c.750C>T | NP_001019195.1:p.Ser250= |