Linked Data
ClinVar Variation Id:
92749
dbSNP Id:
rs199475654
ExAC:
12:103246594 G / A
gnomAD v2:
12-103246594-G-A
gnomAD v4:
12-102852816-G-A
ERepo:
CA220587/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852816G>A , CM000674.2:g.102852816G>A | GRCh38 |
| NC_000012.11:g.103246594G>A , CM000674.1:g.103246594G>A | GRCh37 |
| NC_000012.10:g.101770724G>A | NCBI36 |
| NG_008690.1:g.69787C>T | |
| NG_008690.2:g.110595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.841C>T MANE Select | ENSP00000448059.1:p.Pro281Ser | |
| ENST00000307000.7:c.826C>T | ENSP00000303500.2:p.Pro276Ser | |
| ENST00000549247.6:n.600C>T | ||
| ENST00000553106.5:c.841C>T | ENSP00000448059.1:p.Pro281Ser | |
| ENST00000635477.1:c.2C>T | ||
| NM_000277.1:c.841C>T | NP_000268.1:p.Pro281Ser | |
| XM_011538422.1:c.841C>T | XP_011536724.1:p.Pro281Ser | |
| NM_000277.2:c.841C>T | NP_000268.1:p.Pro281Ser | |
| NM_001354304.1:c.841C>T | NP_001341233.1:p.Pro281Ser | |
| NM_000277.3:c.841C>T MANE Select | NP_000268.1:p.Pro281Ser | |
| NM_001354304.2:c.841C>T | NP_001341233.1:p.Pro281Ser |