Linked Data
ClinVar Variation Id:
1779055
ClinVar RCV Id:
RCV002407445
dbSNP Id:
rs121913305
gnomAD v4:
13-48453032-C-A
MyVariant Identifiers:
chr13:g.49027168C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48453032C>A , CM000675.2:g.48453032C>A | GRCh38 |
| NC_000013.10:g.49027168C>A , CM000675.1:g.49027168C>A | GRCh37 |
| NC_000013.9:g.47925169C>A | NCBI36 |
| NG_009009.1:g.154286C>A , LRG_517:g.154286C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1735C>A MANE Select | ENSP00000267163.4:p.Arg579= | |
| ENST00000643064.1:c.194+71589C>A | ||
| ENST00000650461.1:c.1735C>A | ENSP00000497193.1:p.Arg579= | |
| ENST00000267163.4:c.1735C>A | ENSP00000267163.4:p.Arg579= | |
| ENST00000480491.1:n.434C>A | ||
| NM_000321.2:c.1735C>A , LRG_517t1:c.1735C>A | NP_000312.2:p.Arg579= | |
| XM_011535171.1:c.1474C>A | XP_011533473.1:p.Arg492= | |
| XM_011535171.2:c.1474C>A | XP_011533473.1:p.Arg492= | |
| NM_000321.3:c.1735C>A MANE Select | NP_000312.2:p.Arg579= |