Linked Data
ClinVar Variation Id:
134384
ClinVar RCV Id:
RCV000121058
dbSNP Id:
rs587778350
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.152411346G>C , CM000666.2:g.152411346G>C | GRCh38 |
| NC_000004.11:g.153332498G>C , CM000666.1:g.153332498G>C | GRCh37 |
| NC_000004.10:g.153551948G>C | NCBI36 |
| NG_029466.1:g.128675C>G | |
| NG_029466.2:g.130528C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703552.1:c.1-61222C>G | ENSP00000515368.1:n.1-61222C>G | |
| ENST00000703553.1:c.458C>G | ENSP00000515369.1:p.Pro153Arg | |
| ENST00000703554.1:c.458C>G | ENSP00000515370.1:p.Pro153Arg | |
| ENST00000703555.1:c.1-61222C>G | ENSP00000515371.1:n.1-61222C>G | |
| ENST00000281708.10:c.458C>G MANE Select | ENSP00000281708.3:p.Pro153Arg | |
| ENST00000603548.6:c.458C>G | ENSP00000474725.1:p.Pro153Arg | |
| ENST00000604872.6:c.458C>G | ENSP00000474751.1:p.Pro153Arg | |
| ENST00000281708.8:c.458C>G | ENSP00000281708.3:p.Pro153Arg | |
| ENST00000603548.5:c.458C>G | ENSP00000474725.1:p.Pro153Arg | |
| ENST00000603841.1:c.458C>G | ENSP00000474971.1:p.Pro153Arg | |
| ENST00000604872.5:c.458C>G | ENSP00000474751.1:p.Pro153Arg | |
| ENST00000605042.1:c.458C>G | ENSP00000474538.1:p.Pro153Arg | |
| NM_001257069.1:c.458C>G | NP_001243998.1:p.Pro153Arg | |
| NM_033632.3:c.458C>G | NP_361014.1:p.Pro153Arg | |
| XM_011532083.1:c.458C>G | XP_011530385.1:p.Pro153Arg | |
| XM_011532084.1:c.458C>G | XP_011530386.1:p.Pro153Arg | |
| XM_011532085.1:c.458C>G | XP_011530387.1:p.Pro153Arg | |
| XM_011532086.1:c.196C>G | XP_011530388.1:p.Pro66Ala | |
| XM_011532087.1:c.196C>G | XP_011530389.1:p.Pro66Ala | |
| XM_011532088.1:c.1-61222C>G | XP_011530390.1:n.1-61222C>G | |
| NM_001349798.2:c.458C>G MANE Select | NP_001336727.1:p.Pro153Arg | |
| XM_011532084.2:c.458C>G | XP_011530386.1:p.Pro153Arg | |
| XM_011532085.2:c.458C>G | XP_011530387.1:p.Pro153Arg | |
| XM_011532086.2:c.196C>G | XP_011530388.1:p.Pro66Ala | |
| XM_011532087.2:c.196C>G | XP_011530389.1:p.Pro66Ala | |
| XM_011532088.2:c.1-61222C>G | XP_011530390.1:n.1-61222C>G | |
| XM_024454121.1:c.458C>G | XP_024309889.1:p.Pro153Arg | |
| XM_024454122.1:c.458C>G | XP_024309890.1:p.Pro153Arg | |
| XM_024454123.1:c.458C>G | XP_024309891.1:p.Pro153Arg | |
| XM_024454124.1:c.458C>G | XP_024309892.1:p.Pro153Arg | |
| XM_024454125.1:c.196C>G | XP_024309893.1:p.Pro66Ala | |
| XM_024454126.1:c.1-61222C>G | XP_024309894.1:n.1-61222C>G |