Linked Data
ClinVar Variation Id:
2083728
ClinVar RCV Id:
RCV003009196
dbSNP Id:
rs1033271324
gnomAD v4:
10-119670126-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670126A>G , CM000672.2:g.119670126A>G | GRCh38 |
| NC_000010.10:g.121429638A>G , CM000672.1:g.121429638A>G | GRCh37 |
| NC_000010.9:g.121419628A>G | NCBI36 |
| NG_016125.1:g.23757A>G , LRG_742:g.23757A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.456A>G MANE Select | ENSP00000358081.4:p.Gly152= | |
| ENST00000369085.7:c.456A>G | ENSP00000358081.3:p.Gly152= | |
| ENST00000450186.1:c.282A>G | ENSP00000410036.1:p.Gly94= | |
| NM_004281.3:c.456A>G , LRG_742t1:c.456A>G | NP_004272.2:p.Gly152= | |
| XM_005270287.1:c.456A>G | XP_005270344.1:p.Gly152= | |
| XM_005270287.2:c.456A>G | XP_005270344.1:p.Gly152= | |
| NM_004281.4:c.456A>G MANE Select | NP_004272.2:p.Gly152= |