Linked Data
ClinVar Variation Id:
13739
ClinVar RCV Id:
RCV000014746
dbSNP Id:
rs267606986
PubMed:
PMID:20170896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.27963741A>G , CM000674.2:g.27963741A>G | GRCh38 |
| NC_000012.11:g.28116674A>G , CM000674.1:g.28116674A>G | GRCh37 |
| NC_000012.10:g.28007941A>G | NCBI36 |
| NG_023197.1:g.13243T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545234.6:c.131T>C MANE Select | ENSP00000441765.1:p.Leu44Pro | |
| ENST00000201015.8:c.131T>C | ENSP00000201015.4:p.Leu44Pro | |
| ENST00000395868.7:c.131T>C | ENSP00000379209.3:p.Leu44Pro | |
| ENST00000395872.5:c.131T>C | ENSP00000379213.1:p.Leu44Pro | |
| ENST00000534890.1:c.155T>C | ENSP00000445157.1:p.Leu52Pro | |
| ENST00000535992.5:c.131T>C | ENSP00000440613.1:p.Leu44Pro | |
| ENST00000538310.1:c.131T>C | ENSP00000441890.1:p.Leu44Pro | |
| ENST00000539239.5:c.131T>C | ENSP00000441571.1:p.Leu44Pro | |
| ENST00000542963.1:c.131T>C | ENSP00000444519.1:p.Leu44Pro | |
| ENST00000545234.5:c.131T>C | ENSP00000441765.1:p.Leu44Pro | |
| NM_002820.2:c.131T>C | NP_002811.1:p.Leu44Pro | |
| NM_198964.1:c.131T>C | NP_945315.1:p.Leu44Pro | |
| NM_198965.1:c.131T>C | NP_945316.1:p.Leu44Pro | |
| NM_198966.1:c.131T>C | NP_945317.1:p.Leu44Pro | |
| XM_011520774.1:c.131T>C | XP_011519076.1:p.Leu44Pro | |
| XM_011520775.1:c.131T>C | XP_011519077.1:p.Leu44Pro | |
| XM_011520774.2:c.131T>C | XP_011519076.1:p.Leu44Pro | |
| XM_011520775.2:c.131T>C | XP_011519077.1:p.Leu44Pro | |
| XM_017019675.1:c.131T>C | XP_016875164.1:p.Leu44Pro | |
| NM_198964.2:c.131T>C | NP_945315.1:p.Leu44Pro | |
| NM_198965.2:c.131T>C MANE Select | NP_945316.1:p.Leu44Pro | |
| NM_198966.2:c.131T>C | NP_945317.1:p.Leu44Pro | |
| NM_002820.3:c.131T>C | NP_002811.1:p.Leu44Pro |