Linked Data
ClinVar Variation Id:
1036705
dbSNP Id:
rs1032510984
gnomAD v2:
13-49050885-C-G
gnomAD v4:
13-48476749-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476749C>G , CM000675.2:g.48476749C>G | GRCh38 |
| NC_000013.10:g.49050885C>G , CM000675.1:g.49050885C>G | GRCh37 |
| NC_000013.9:g.47948886C>G | NCBI36 |
| NG_009009.1:g.178003C>G , LRG_517:g.178003C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2569C>G MANE Select | ENSP00000267163.4:p.Arg857Gly | |
| ENST00000643064.1:c.194+95306C>G | ||
| ENST00000650461.1:c.2569C>G | ENSP00000497193.1:p.Arg857Gly | |
| ENST00000267163.4:c.2569C>G | ENSP00000267163.4:p.Arg857Gly | |
| ENST00000484879.1:n.303C>G | ||
| ENST00000531171.5:n.172C>G | ||
| NM_000321.2:c.2569C>G , LRG_517t1:c.2569C>G | NP_000312.2:p.Arg857Gly | |
| XM_011535171.1:c.2308C>G | XP_011533473.1:p.Arg770Gly | |
| XM_011535171.2:c.2308C>G | XP_011533473.1:p.Arg770Gly | |
| NM_000321.3:c.2569C>G MANE Select | NP_000312.2:p.Arg857Gly |