Linked Data
ClinVar Variation Id:
30195
ClinVar RCV Id:
RCV000023114
dbSNP Id:
rs387906809
PubMed:
PMID:21937992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42968377A>G , CM000668.2:g.42968377A>G | GRCh38 |
| NC_000006.11:g.42936115A>G , CM000668.1:g.42936115A>G | GRCh37 |
| NC_000006.10:g.43044093A>G | NCBI36 |
| NG_008370.1:g.15867T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1601T>C MANE Select | ENSP00000303511.8:p.Leu534Pro | |
| ENST00000244546.4:c.1601T>C | ENSP00000244546.4:p.Leu534Pro | |
| ENST00000304611.12:c.1601T>C | ENSP00000303511.8:p.Leu534Pro | |
| NM_000287.3:c.1601T>C | NP_000278.3:p.Leu534Pro | |
| NM_001316313.1:c.1337T>C | NP_001303242.1:p.Leu446Pro | |
| NR_133009.1:n.1694T>C | ||
| XM_011514661.1:c.1517T>C | XP_011512963.1:p.Leu506Pro | |
| XR_926246.1:n.1582T>C | ||
| XM_011514661.2:c.1517T>C | XP_011512963.1:p.Leu506Pro | |
| XR_001743466.2:n.2563T>C | ||
| NM_000287.4:c.1601T>C MANE Select | NP_000278.3:p.Leu534Pro | |
| NM_001316313.2:c.1337T>C | NP_001303242.1:p.Leu446Pro | |
| NR_133009.2:n.1632T>C |