Linked Data
ClinVar Variation Id:
161736
ClinVar RCV Id:
RCV000149272
dbSNP Id:
rs193921129
COSMIC:
COSM1179552
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66885174A>G , CM000678.2:g.66885174A>G | GRCh38 |
| NC_000016.9:g.66919077A>G , CM000678.1:g.66919077A>G | GRCh37 |
| NC_000016.8:g.65476578A>G | NCBI36 |
| NG_051332.2:g.9814A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311765.4:c.890A>G MANE Select | ENSP00000309548.2:p.Asn297Ser | |
| ENST00000311765.3:c.890A>G | ENSP00000309548.2:p.Asn297Ser | |
| ENST00000566805.5:n.256+804A>G | ||
| ENST00000568720.1:n.59+4534A>G | ||
| NM_020786.2:c.890A>G | NP_065837.1:p.Asn297Ser | |
| XM_005256064.3:c.890A>G | XP_005256121.1:p.Asn297Ser | |
| XM_005256066.3:c.890A>G | XP_005256123.1:p.Asn297Ser | |
| XM_005256067.3:c.890A>G | XP_005256124.1:p.Asn297Ser | |
| XM_005256068.3:c.890A>G | XP_005256125.1:p.Asn297Ser | |
| NM_001329928.1:c.890A>G | NP_001316857.1:p.Asn297Ser | |
| NM_001329929.1:c.890A>G | NP_001316858.1:p.Asn297Ser | |
| NM_001329930.1:c.890A>G | NP_001316859.1:p.Asn297Ser | |
| NM_001329931.1:c.890A>G | NP_001316860.1:p.Asn297Ser | |
| NM_001329932.1:c.890A>G | NP_001316861.1:p.Asn297Ser | |
| NM_001329933.1:c.890A>G | NP_001316862.1:p.Asn297Ser | |
| NM_001329934.1:c.890A>G | NP_001316863.1:p.Asn297Ser | |
| NM_020786.3:c.890A>G | NP_065837.1:p.Asn297Ser | |
| NM_001329928.2:c.890A>G | NP_001316857.1:p.Asn297Ser | |
| NM_001329929.2:c.890A>G | NP_001316858.1:p.Asn297Ser | |
| NM_001329930.2:c.890A>G | NP_001316859.1:p.Asn297Ser | |
| NM_001329931.2:c.890A>G | NP_001316860.1:p.Asn297Ser | |
| NM_001329932.2:c.890A>G | NP_001316861.1:p.Asn297Ser | |
| NM_001329933.2:c.890A>G | NP_001316862.1:p.Asn297Ser | |
| NM_001329934.2:c.890A>G | NP_001316863.1:p.Asn297Ser | |
| NM_020786.4:c.890A>G MANE Select | NP_065837.1:p.Asn297Ser |