Linked Data
ClinVar Variation Id:
9284
ClinVar RCV Id:
RCV000009867
dbSNP Id:
rs104894436
ExAC:
14:55312526 C / A
gnomAD v2:
14-55312526-C-A
gnomAD v3:
14-54845808-C-A
gnomAD v4:
14-54845808-C-A
PubMed:
PMID:10078749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54845808C>A , CM000676.2:g.54845808C>A | GRCh38 |
| NC_000014.8:g.55312526C>A , CM000676.1:g.55312526C>A | GRCh37 |
| NC_000014.7:g.54382276C>A | NCBI36 |
| NG_008647.1:g.62017G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491895.7:c.586G>T MANE Select | ENSP00000419045.2:p.Ala196Ser | |
| ENST00000254299.8:n.734G>T | ||
| ENST00000395514.5:c.586G>T | ENSP00000378890.1:p.Ala196Ser | |
| ENST00000395521.6:n.293-2754G>T | ||
| ENST00000491895.6:c.586G>T | ENSP00000419045.2:p.Ala196Ser | |
| ENST00000536224.2:c.586G>T | ENSP00000445246.2:p.Ala196Ser | |
| ENST00000543643.6:c.586G>T | ENSP00000444011.2:p.Ala196Ser | |
| ENST00000622544.4:c.586G>T | ENSP00000477796.1:p.Ala196Ser | |
| NM_000161.2:c.586G>T | NP_000152.1:p.Ala196Ser | |
| NM_001024024.1:c.586G>T | NP_001019195.1:p.Ala196Ser | |
| NM_001024070.1:c.586G>T | NP_001019241.1:p.Ala196Ser | |
| NM_001024071.1:c.586G>T | NP_001019242.1:p.Ala196Ser | |
| XM_005267530.1:c.586G>T | XP_005267587.1:p.Ala196Ser | |
| XM_017021218.1:c.292G>T | XP_016876707.1:p.Ala98Ser | |
| NM_000161.3:c.586G>T MANE Select | NP_000152.1:p.Ala196Ser | |
| NM_001024070.2:c.586G>T | NP_001019241.1:p.Ala196Ser | |
| NM_001024071.2:c.586G>T | NP_001019242.1:p.Ala196Ser | |
| NM_001024024.2:c.586G>T | NP_001019195.1:p.Ala196Ser |