Linked Data
ClinVar Variation Id:
169
ClinVar RCV Id:
RCV000000192
dbSNP Id:
rs121965052
PubMed:
PMID:1612597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124403820C>G , CM000672.2:g.124403820C>G | GRCh38 |
| NC_000010.10:g.126092389C>G , CM000672.1:g.126092389C>G | GRCh37 |
| NC_000010.9:g.126082379C>G | NCBI36 |
| NG_008861.1:g.20131G>C , LRG_685:g.20131G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.749G>C MANE Select | ENSP00000357838.5:p.Arg250Pro | |
| ENST00000368845.5:c.749G>C | ENSP00000357838.5:p.Arg250Pro | |
| ENST00000467675.5:n.550G>C | ||
| ENST00000539214.5:c.335G>C | ENSP00000439042.1:p.Arg112Pro | |
| NM_000274.3:c.749G>C , LRG_685t1:c.749G>C | NP_000265.1:p.Arg250Pro | |
| NM_001171814.1:c.335G>C | NP_001165285.1:p.Arg112Pro | |
| XM_006717871.2:c.749G>C | XP_006717934.1:p.Arg250Pro | |
| XM_011539833.1:c.749G>C | XP_011538135.1:p.Arg250Pro | |
| XM_011539834.1:c.749G>C | XP_011538136.1:p.Arg250Pro | |
| NM_001322965.1:c.749G>C | NP_001309894.1:p.Arg250Pro | |
| NM_001322966.1:c.749G>C | NP_001309895.1:p.Arg250Pro | |
| NM_001322967.1:c.749G>C | NP_001309896.1:p.Arg250Pro | |
| NM_001322968.1:c.749G>C | NP_001309897.1:p.Arg250Pro | |
| NM_001322969.1:c.749G>C | NP_001309898.1:p.Arg250Pro | |
| NM_001322970.1:c.749G>C | NP_001309899.1:p.Arg250Pro | |
| NM_001322971.1:c.428G>C | NP_001309900.1:p.Arg143Pro | |
| NM_001322974.1:c.149G>C | NP_001309903.1:p.Arg50Pro | |
| XM_017016279.1:c.149G>C | XP_016871768.1:p.Arg50Pro | |
| NM_000274.4:c.749G>C MANE Select | NP_000265.1:p.Arg250Pro | |
| NM_001322965.2:c.749G>C | NP_001309894.1:p.Arg250Pro | |
| NM_001322966.2:c.749G>C | NP_001309895.1:p.Arg250Pro | |
| NM_001322967.2:c.749G>C | NP_001309896.1:p.Arg250Pro | |
| NM_001322968.2:c.749G>C | NP_001309897.1:p.Arg250Pro | |
| NM_001322969.2:c.749G>C | NP_001309898.1:p.Arg250Pro | |
| NM_001322970.2:c.749G>C | NP_001309899.1:p.Arg250Pro | |
| NM_001322971.2:c.428G>C | NP_001309900.1:p.Arg143Pro | |
| NM_001322974.2:c.149G>C | NP_001309903.1:p.Arg50Pro | |
| NM_001171814.2:c.335G>C | NP_001165285.1:p.Arg112Pro |