Linked Data
ClinVar Variation Id:
256812
dbSNP Id:
rs1800496
ExAC:
11:113283488 G / A
gnomAD v2:
11-113283488-G-A
gnomAD v3:
11-113412766-G-A
gnomAD v4:
11-113412766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412766G>A , CM000673.2:g.113412766G>A | GRCh38 |
| NC_000011.9:g.113283488G>A , CM000673.1:g.113283488G>A | GRCh37 |
| NC_000011.8:g.112788698G>A | NCBI36 |
| NG_008841.1:g.67514C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.928C>T MANE Select | ENSP00000354859.3:p.Pro310Ser | |
| ENST00000346454.7:c.841C>T | ENSP00000278597.5:p.Pro281Ser | |
| ENST00000362072.7:c.928C>T | ENSP00000354859.3:p.Pro310Ser | |
| ENST00000538967.5:c.934C>T | ENSP00000438215.1:p.Pro312Ser | |
| ENST00000542968.5:c.928C>T | ENSP00000442172.1:p.Pro310Ser | |
| ENST00000544518.5:c.925C>T | ENSP00000441068.1:p.Pro309Ser | |
| NM_000795.3:c.928C>T | NP_000786.1:p.Pro310Ser | |
| NM_016574.3:c.841C>T | NP_057658.2:p.Pro281Ser | |
| XM_017017296.2:c.928C>T | XP_016872785.1:p.Pro310Ser | |
| NM_000795.4:c.928C>T MANE Select | NP_000786.1:p.Pro310Ser | |
| NM_016574.4:c.841C>T | NP_057658.2:p.Pro281Ser |