Linked Data
ClinVar Variation Id:
162775
dbSNP Id:
rs727502898
gnomAD v2:
10-121429465-C-G
gnomAD v3:
10-119669953-C-G
gnomAD v4:
10-119669953-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119669953C>G , CM000672.2:g.119669953C>G | GRCh38 |
| NC_000010.10:g.121429465C>G , CM000672.1:g.121429465C>G | GRCh37 |
| NC_000010.9:g.121419455C>G | NCBI36 |
| NG_016125.1:g.23584C>G , LRG_742:g.23584C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.283C>G MANE Select | ENSP00000358081.4:p.Pro95Ala | |
| ENST00000369085.7:c.283C>G | ENSP00000358081.3:p.Pro95Ala | |
| ENST00000450186.1:c.109C>G | ENSP00000410036.1:p.Pro37Ala | |
| NM_004281.3:c.283C>G , LRG_742t1:c.283C>G | NP_004272.2:p.Pro95Ala | |
| XM_005270287.1:c.283C>G | XP_005270344.1:p.Pro95Ala | |
| XM_005270287.2:c.283C>G | XP_005270344.1:p.Pro95Ala | |
| NM_004281.4:c.283C>G MANE Select | NP_004272.2:p.Pro95Ala |