Linked Data
ClinVar Variation Id:
172
ClinVar RCV Id:
RCV000000195
dbSNP Id:
rs121965054
gnomAD v4:
10-124398082-A-G
COSMIC:
COSM1346571
PubMed:
PMID:1612597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124398082A>G , CM000672.2:g.124398082A>G | GRCh38 |
| NC_000010.10:g.126086651A>G , CM000672.1:g.126086651A>G | GRCh37 |
| NC_000010.9:g.126076641A>G | NCBI36 |
| NG_008861.1:g.25869T>C , LRG_685:g.25869T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.1180T>C MANE Select | ENSP00000357838.5:p.Cys394Arg | |
| ENST00000368845.5:c.1180T>C | ENSP00000357838.5:p.Cys394Arg | |
| ENST00000471127.1:n.690T>C | ||
| ENST00000539214.5:c.766T>C | ENSP00000439042.1:p.Cys256Arg | |
| NM_000274.3:c.1180T>C , LRG_685t1:c.1180T>C | NP_000265.1:p.Cys394Arg | |
| NM_001171814.1:c.766T>C | NP_001165285.1:p.Cys256Arg | |
| XM_006717871.2:c.1180T>C | XP_006717934.1:p.Cys394Arg | |
| XM_011539833.1:c.1180T>C | XP_011538135.1:p.Cys394Arg | |
| XM_011539834.1:c.1180T>C | XP_011538136.1:p.Cys394Arg | |
| NM_001322965.1:c.1180T>C | NP_001309894.1:p.Cys394Arg | |
| NM_001322966.1:c.1180T>C | NP_001309895.1:p.Cys394Arg | |
| NM_001322967.1:c.1180T>C | NP_001309896.1:p.Cys394Arg | |
| NM_001322968.1:c.1180T>C | NP_001309897.1:p.Cys394Arg | |
| NM_001322969.1:c.1180T>C | NP_001309898.1:p.Cys394Arg | |
| NM_001322970.1:c.1180T>C | NP_001309899.1:p.Cys394Arg | |
| NM_001322971.1:c.859T>C | NP_001309900.1:p.Cys287Arg | |
| NM_001322974.1:c.580T>C | NP_001309903.1:p.Cys194Arg | |
| XM_017016279.1:c.580T>C | XP_016871768.1:p.Cys194Arg | |
| NM_000274.4:c.1180T>C MANE Select | NP_000265.1:p.Cys394Arg | |
| NM_001322965.2:c.1180T>C | NP_001309894.1:p.Cys394Arg | |
| NM_001322966.2:c.1180T>C | NP_001309895.1:p.Cys394Arg | |
| NM_001322967.2:c.1180T>C | NP_001309896.1:p.Cys394Arg | |
| NM_001322968.2:c.1180T>C | NP_001309897.1:p.Cys394Arg | |
| NM_001322969.2:c.1180T>C | NP_001309898.1:p.Cys394Arg | |
| NM_001322970.2:c.1180T>C | NP_001309899.1:p.Cys394Arg | |
| NM_001322971.2:c.859T>C | NP_001309900.1:p.Cys287Arg | |
| NM_001322974.2:c.580T>C | NP_001309903.1:p.Cys194Arg | |
| NM_001171814.2:c.766T>C | NP_001165285.1:p.Cys256Arg |