Linked Data
ClinVar Variation Id:
1429464
ClinVar RCV Id:
RCV001967254
dbSNP Id:
rs1566194740
gnomAD v2:
13-48942698-T-C
gnomAD v3:
13-48368562-T-C
gnomAD v4:
13-48368562-T-C
MyVariant Identifiers:
chr13:g.48942698T>C (hg19)
chr13:g.48942698_48942701delinsCTGA (hg19)
chr13:g.48368562T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48368562T>C , CM000675.2:g.48368562T>C | GRCh38 |
| NC_000013.10:g.48942698T>C , CM000675.1:g.48942698T>C | GRCh37 |
| NC_000013.9:g.47840699T>C | NCBI36 |
| NG_009009.1:g.69816T>C , LRG_517:g.69816T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1085T>C MANE Select | ENSP00000267163.4:p.Leu362Pro | |
| ENST00000650461.1:c.1085T>C | ENSP00000497193.1:p.Leu362Pro | |
| ENST00000267163.4:c.1085T>C | ENSP00000267163.4:p.Leu362Pro | |
| NM_000321.2:c.1085T>C , LRG_517t1:c.1085T>C | NP_000312.2:p.Leu362Pro | |
| XM_011535171.1:c.824T>C | XP_011533473.1:p.Leu275Pro | |
| XM_011535171.2:c.824T>C | XP_011533473.1:p.Leu275Pro | |
| XR_002957522.1:n.122-3586A>G | ||
| NM_000321.3:c.1085T>C MANE Select | NP_000312.2:p.Leu362Pro |