Linked Data
ClinVar Variation Id:
17916
ClinVar RCV Id:
RCV000019505
dbSNP Id:
rs121912722
gnomAD v2:
11-116706762-G-C
gnomAD v3:
11-116836046-G-C
gnomAD v4:
11-116836046-G-C
PubMed:
PMID:2512329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836046G>C , CM000673.2:g.116836046G>C | GRCh38 |
| NC_000011.9:g.116706762G>C , CM000673.1:g.116706762G>C | GRCh37 |
| NC_000011.8:g.116211972G>C | NCBI36 |
| NG_012021.1:g.6577C>G , LRG_767:g.6577C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236850.5:c.566C>G MANE Select | ENSP00000236850.3:p.Pro189Arg | |
| ENST00000236850.4:c.566C>G | ENSP00000236850.3:p.Pro189Arg | |
| ENST00000359492.6:c.566C>G | ENSP00000352471.2:p.Pro189Arg | |
| ENST00000375320.5:c.566C>G | ENSP00000364469.1:p.Pro189Arg | |
| ENST00000375323.5:c.566C>G | ENSP00000364472.1:p.Pro189Arg | |
| ENST00000375329.6:c.500C>G | ENSP00000364478.2:p.Pro167Arg | |
| NM_000039.1:c.566C>G , LRG_767t1:c.566C>G | NP_000030.1:p.Pro189Arg | |
| XM_005271539.2:c.566C>G | XP_005271596.1:p.Pro189Arg | |
| XM_005271540.1:c.566C>G | XP_005271597.1:p.Pro189Arg | |
| NM_000039.2:c.566C>G | NP_000030.1:p.Pro189Arg | |
| NM_001318017.1:c.566C>G | NP_001304946.1:p.Pro189Arg | |
| NM_001318018.1:c.566C>G | NP_001304947.1:p.Pro189Arg | |
| NM_001318021.1:c.239C>G | NP_001304950.1:p.Pro80Arg | |
| NM_001318017.2:c.566C>G | NP_001304946.1:p.Pro189Arg | |
| NM_001318018.2:c.566C>G | NP_001304947.1:p.Pro189Arg | |
| NM_000039.3:c.566C>G MANE Select | NP_000030.1:p.Pro189Arg |