Linked Data
ClinVar Variation Id:
30141
ClinVar RCV Id:
RCV000023052
dbSNP Id:
rs137853892
PubMed:
PMID:20188343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75566582T>C , CM000673.2:g.75566582T>C | GRCh38 |
| NC_000011.9:g.75277627T>C , CM000673.1:g.75277627T>C | GRCh37 |
| NC_000011.8:g.74955275T>C | NCBI36 |
| NG_012052.1:g.9458T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358171.8:c.233T>C MANE Select | ENSP00000350894.4:p.Leu78Pro | |
| ENST00000533449.6:c.233T>C | ENSP00000431827.2:p.Leu78Pro | |
| ENST00000649490.1:c.233T>C | ENSP00000497544.1:p.Leu78Pro | |
| ENST00000358171.7:c.233T>C | ENSP00000350894.3:p.Leu78Pro | |
| ENST00000524558.5:c.233T>C | ENSP00000434412.1:p.Leu78Pro | |
| ENST00000525492.5:c.118-26T>C | ENSP00000434482.1:n.118-26T>C | |
| ENST00000525611.5:c.233T>C | ENSP00000435452.1:p.Leu78Pro | |
| ENST00000526242.1:c.158T>C | ENSP00000431384.1:p.Leu53Pro | |
| ENST00000526397.5:c.233T>C | ENSP00000434964.1:p.Leu78Pro | |
| ENST00000528760.1:c.233T>C | ENSP00000437108.1:p.Leu78Pro | |
| ENST00000528990.1:c.233T>C | ENSP00000432007.2:p.Leu78Pro | |
| ENST00000529643.1:c.233T>C | ENSP00000435936.1:p.Leu78Pro | |
| ENST00000530284.5:c.233T>C | ENSP00000436305.1:p.Leu78Pro | |
| ENST00000532356.5:c.233T>C | ENSP00000436040.1:p.Leu78Pro | |
| ENST00000533449.5:c.233T>C | ENSP00000431827.1:p.Leu78Pro | |
| ENST00000533603.5:c.233T>C | ENSP00000434657.1:p.Leu78Pro | |
| NM_001207014.1:c.233T>C | NP_001193943.1:p.Leu78Pro | |
| NM_001235.3:c.233T>C | NP_001226.2:p.Leu78Pro | |
| XM_006718729.1:c.233T>C | XP_006718792.1:p.Leu78Pro | |
| XM_011545326.1:c.233T>C | XP_011543628.1:p.Leu78Pro | |
| XM_011545327.1:c.233T>C | XP_011543629.1:p.Leu78Pro | |
| XM_024448756.1:c.233T>C | XP_024304524.1:p.Leu78Pro | |
| NM_001207014.2:c.233T>C | NP_001193943.1:p.Leu78Pro | |
| NM_001235.5:c.233T>C MANE Select | NP_001226.2:p.Leu78Pro | |
| NM_001207014.3:c.233T>C | NP_001193943.1:p.Leu78Pro |