Linked Data
ClinVar Variation Id:
1172394
ClinVar RCV Id:
RCV001526247
dbSNP Id:
rs2138646993
COSMIC:
COSM432904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417675G>A , CM000676.2:g.23417675G>A | GRCh38 |
| NC_000014.8:g.23886884G>A , CM000676.1:g.23886884G>A | GRCh37 |
| NC_000014.7:g.22956724G>A | NCBI36 |
| NG_007884.1:g.22987C>T , LRG_384:g.22987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4181C>T MANE Select | ENSP00000347507.3:p.Ala1394Val | |
| ENST00000355349.3:c.4181C>T | ENSP00000347507.3:p.Ala1394Val | |
| NM_000257.3:c.4181C>T | NP_000248.2:p.Ala1394Val | |
| XM_017021340.1:c.4181C>T | XP_016876829.1:p.Ala1394Val | |
| NM_000257.4:c.4181C>T MANE Select | NP_000248.2:p.Ala1394Val |