Linked Data
ClinVar Variation Id:
21049
ClinVar RCV Id:
RCV000814585
dbSNP Id:
rs80356689
PubMed:
PMID:20301529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330775T>C , CM000669.2:g.143330775T>C | GRCh38 |
| NC_000007.13:g.143027868T>C , CM000669.1:g.143027868T>C | GRCh37 |
| NC_000007.12:g.142737990T>C | NCBI36 |
| NG_009815.1:g.19650T>C | |
| NG_009815.2:g.19650T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.857T>C | ENSP00000498052.2:p.Val286Ala | |
| ENST00000343257.7:c.857T>C MANE Select | ENSP00000339867.2:p.Val286Ala | |
| ENST00000432192.6:c.681T>C | ||
| ENST00000455478.6:c.445T>C | ENSP00000400027.2:n.445T>C | |
| ENST00000650516.1:c.857T>C | ENSP00000498052.1:p.Val286Ala | |
| ENST00000343257.6:c.857T>C | ENSP00000339867.2:p.Val286Ala | |
| ENST00000432192.5:c.371T>C | ||
| ENST00000455478.5:c.449T>C | ||
| ENST00000495612.1:n.158T>C | ||
| NM_000083.2:c.857T>C | NP_000074.2:p.Val286Ala | |
| NR_046453.1:n.947T>C | ||
| XM_011515781.1:c.857T>C | XP_011514083.1:p.Val286Ala | |
| XM_017011739.1:c.407T>C | XP_016867228.1:p.Val136Ala | |
| XM_017011740.1:c.407T>C | XP_016867229.1:p.Val136Ala | |
| NM_000083.3:c.857T>C MANE Select | NP_000074.3:p.Val286Ala | |
| NR_046453.2:n.962T>C |