Linked Data
ClinVar Variation Id:
16993
ClinVar RCV Id:
RCV000018516
dbSNP Id:
rs121912969
PubMed:
PMID:16709485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121446879T>C , CM000668.2:g.121446879T>C | GRCh38 |
| NC_000006.11:g.121768025T>C , CM000668.1:g.121768025T>C | GRCh37 |
| NC_000006.10:g.121809724T>C | NCBI36 |
| NG_008308.1:g.16281T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.32T>C MANE Select | ENSP00000282561.3:p.Leu11Pro | |
| ENST00000647564.1:c.32T>C | ENSP00000497565.1:p.Leu11Pro | |
| ENST00000649003.1:c.32T>C | ENSP00000497283.1:p.Leu11Pro | |
| ENST00000650427.1:c.32T>C | ENSP00000497367.1:p.Leu11Pro | |
| ENST00000282561.3:c.32T>C | ENSP00000282561.3:p.Leu11Pro | |
| NM_000165.4:c.32T>C | NP_000156.1:p.Leu11Pro | |
| NM_000165.5:c.32T>C MANE Select | NP_000156.1:p.Leu11Pro |