Linked Data
ClinVar Variation Id:
40535
ClinVar RCV Id:
RCV000033517
RCV000037668
RCV001193110
RCV002287350
RCV002371807
RCV001813251
RCV002482942
RCV004532491
dbSNP Id:
rs121918455
COSMIC:
COSM1628389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112477720A>C , CM000674.2:g.112477720A>C | GRCh38 |
| NC_000012.11:g.112915524A>C , CM000674.1:g.112915524A>C | GRCh37 |
| NC_000012.10:g.111399907A>C | NCBI36 |
| NG_007459.1:g.63989A>C , LRG_614:g.63989A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.923A>C | ENSP00000491593.2:p.Asn308Thr | |
| ENST00000685487.1:c.923A>C | ENSP00000508503.1:p.Asn308Thr | |
| ENST00000687906.1:c.809A>C | ENSP00000509536.1:p.Asn270Thr | |
| ENST00000688597.1:c.923A>C | ENSP00000510628.1:p.Asn308Thr | |
| ENST00000690210.1:c.923A>C | ENSP00000509272.1:p.Asn308Thr | |
| ENST00000692624.1:c.923A>C | ENSP00000508953.1:p.Asn308Thr | |
| ENST00000351677.7:c.923A>C MANE Select | ENSP00000340944.3:p.Asn308Thr | |
| ENST00000351677.6:c.923A>C | ENSP00000340944.2:p.Asn308Thr | |
| ENST00000392597.5:c.923A>C | ENSP00000376376.1:p.Asn308Thr | |
| ENST00000635625.1:c.923A>C | ENSP00000489597.1:p.Asn308Thr | |
| NM_002834.3:c.923A>C , LRG_614t1:c.923A>C | NP_002825.3:p.Asn308Thr | |
| NM_080601.1:c.923A>C | NP_542168.1:p.Asn308Thr | |
| XM_006719526.1:c.923A>C | XP_006719589.1:p.Asn308Thr | |
| XM_006719527.1:c.809A>C | XP_006719590.1:p.Asn270Thr | |
| XM_011538613.1:c.920A>C | XP_011536915.1:p.Asn307Thr | |
| NM_001330437.1:c.923A>C | NP_001317366.1:p.Asn308Thr | |
| NM_002834.4:c.923A>C | NP_002825.3:p.Asn308Thr | |
| NM_080601.2:c.923A>C | NP_542168.1:p.Asn308Thr | |
| XM_011538613.2:c.920A>C | XP_011536915.1:p.Asn307Thr | |
| XM_017019722.1:c.920A>C | XP_016875211.1:p.Asn307Thr | |
| NM_001330437.2:c.923A>C | NP_001317366.1:p.Asn308Thr | |
| NM_001374625.1:c.920A>C | NP_001361554.1:p.Asn307Thr | |
| NM_002834.5:c.923A>C MANE Select | NP_002825.3:p.Asn308Thr | |
| NM_080601.3:c.923A>C | NP_542168.1:p.Asn308Thr |