Linked Data
ClinVar Variation Id:
2836209
ClinVar RCV Id:
RCV003628294
dbSNP Id:
rs2138145089
MyVariant Identifiers:
chr13:g.48955438G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381302G>C , CM000675.2:g.48381302G>C | GRCh38 |
| NC_000013.10:g.48955438G>C , CM000675.1:g.48955438G>C | GRCh37 |
| NC_000013.9:g.47853439G>C | NCBI36 |
| NG_009009.1:g.82556G>C , LRG_517:g.82556G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1554G>C MANE Select | ENSP00000267163.4:p.Leu518= | |
| ENST00000643064.1:c.53G>C | ||
| ENST00000650461.1:c.1554G>C | ENSP00000497193.1:p.Leu518= | |
| ENST00000267163.4:c.1554G>C | ENSP00000267163.4:p.Leu518= | |
| NM_000321.2:c.1554G>C , LRG_517t1:c.1554G>C | NP_000312.2:p.Leu518= | |
| XM_011535171.1:c.1293G>C | XP_011533473.1:p.Leu431= | |
| XM_011535171.2:c.1293G>C | XP_011533473.1:p.Leu431= | |
| NM_000321.3:c.1554G>C MANE Select | NP_000312.2:p.Leu518= |