Linked Data
ClinVar Variation Id:
495051
ClinVar RCV Id:
RCV000585701
dbSNP Id:
rs1553657430
PubMed:
PMID:26478010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203870888C>A , CM000664.2:g.203870888C>A | GRCh38 |
| NC_000002.11:g.204735611C>A , CM000664.1:g.204735611C>A | GRCh37 |
| NC_000002.10:g.204443856C>A | NCBI36 |
| NG_011502.1:g.8103C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.412C>A | ENSP00000512353.1:p.Pro138Thr | |
| ENST00000696479.1:c.484C>A | ENSP00000512655.1:p.Pro162Thr | |
| ENST00000427473.3:n.446C>A | ||
| ENST00000648405.2:c.412C>A MANE Select | ENSP00000497102.1:p.Pro138Thr | |
| ENST00000650075.1:n.436C>A | ||
| ENST00000295854.10:c.412C>A | ENSP00000295854.6:p.Pro138Thr | |
| ENST00000302823.7:c.412C>A | ENSP00000303939.3:p.Pro138Thr | |
| ENST00000427473.2:c.301C>A | ENSP00000409707.2:p.Pro101Thr | |
| ENST00000472206.1:c.172+240C>A | ENSP00000417779.1:n.172+240C>A | |
| ENST00000487393.1:n.110-1820C>A | ||
| NM_001037631.2:c.412C>A | NP_001032720.1:p.Pro138Thr | |
| NM_005214.4:c.412C>A | NP_005205.2:p.Pro138Thr | |
| XR_241294.1:n.552C>A | ||
| NM_001037631.3:c.412C>A | NP_001032720.1:p.Pro138Thr | |
| NM_005214.5:c.412C>A MANE Select | NP_005205.2:p.Pro138Thr |