Linked Data
ClinVar Variation Id:
462132
ClinVar RCV Id:
RCV000529433
dbSNP Id:
rs891861059
COSMIC:
COSM1701399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98293861G>A , CM000671.2:g.98293861G>A | GRCh38 |
| NC_000009.11:g.101056143G>A , CM000671.1:g.101056143G>A | GRCh37 |
| NC_000009.10:g.100095964G>A | NCBI36 |
| NG_016426.1:g.420337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.2584C>T MANE Select | ENSP00000259455.2:p.Pro862Ser | |
| ENST00000637410.1:n.2362C>T | ||
| ENST00000259455.3:c.2584C>T | ENSP00000259455.2:p.Pro862Ser | |
| NM_005458.7:c.2584C>T | NP_005449.5:p.Pro862Ser | |
| XM_005252316.3:c.1810C>T | XP_005252373.1:p.Pro604Ser | |
| XM_005252316.5:c.1810C>T | XP_005252373.1:p.Pro604Ser | |
| XM_017015331.2:c.2290C>T | XP_016870820.1:p.Pro764Ser | |
| XM_017015332.2:c.1810C>T | XP_016870821.1:p.Pro604Ser | |
| NM_005458.8:c.2584C>T MANE Select | NP_005449.5:p.Pro862Ser |