Linked Data
ClinVar Variation Id:
6047
ClinVar RCV Id:
RCV000006419
dbSNP Id:
rs121908620
PubMed:
PMID:18698629
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007888T>C , CM000672.2:g.72007888T>C | GRCh38 |
| NC_000010.10:g.73767646T>C , CM000672.1:g.73767646T>C | GRCh37 |
| NC_000010.9:g.73437652T>C | NCBI36 |
| NG_012635.1:g.48527T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.857T>C MANE Select | ENSP00000362207.4:p.Leu286Pro | |
| ENST00000373115.4:c.857T>C | ENSP00000362207.4:p.Leu286Pro | |
| NM_004273.4:c.857T>C | NP_004264.2:p.Leu286Pro | |
| XM_006718075.2:c.857T>C | XP_006718138.1:p.Leu286Pro | |
| XM_011540369.1:c.857T>C | XP_011538671.1:p.Leu286Pro | |
| XM_006718075.4:c.857T>C | XP_006718138.1:p.Leu286Pro | |
| XM_011540369.2:c.857T>C | XP_011538671.1:p.Leu286Pro | |
| NM_004273.5:c.857T>C MANE Select | NP_004264.2:p.Leu286Pro |