Linked Data
ClinVar Variation Id:
56122
ClinVar RCV Id:
RCV000049531
dbSNP Id:
rs386833604
PubMed:
PMID:23076989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124408854T>C , CM000672.2:g.124408854T>C | GRCh38 |
| NC_000010.10:g.126097423T>C , CM000672.1:g.126097423T>C | GRCh37 |
| NC_000010.9:g.126087413T>C | NCBI36 |
| NG_008861.1:g.15097A>G , LRG_685:g.15097A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.311A>G MANE Select | ENSP00000357838.5:p.Gln104Arg | |
| ENST00000368845.5:c.311A>G | ENSP00000357838.5:p.Gln104Arg | |
| ENST00000476917.5:n.376A>G | ||
| ENST00000490096.5:n.547A>G | ||
| ENST00000539214.5:c.-104A>G | ENSP00000439042.1:n.-104A>G | |
| NM_000274.3:c.311A>G , LRG_685t1:c.311A>G | NP_000265.1:p.Gln104Arg | |
| NM_001171814.1:c.-104A>G | NP_001165285.1:n.-104A>G | |
| XM_006717871.2:c.311A>G | XP_006717934.1:p.Gln104Arg | |
| XM_011539833.1:c.311A>G | XP_011538135.1:p.Gln104Arg | |
| XM_011539834.1:c.311A>G | XP_011538136.1:p.Gln104Arg | |
| NM_001322965.1:c.311A>G | NP_001309894.1:p.Gln104Arg | |
| NM_001322966.1:c.311A>G | NP_001309895.1:p.Gln104Arg | |
| NM_001322967.1:c.311A>G | NP_001309896.1:p.Gln104Arg | |
| NM_001322968.1:c.311A>G | NP_001309897.1:p.Gln104Arg | |
| NM_001322969.1:c.311A>G | NP_001309898.1:p.Gln104Arg | |
| NM_001322970.1:c.311A>G | NP_001309899.1:p.Gln104Arg | |
| NM_001322971.1:c.199+3119A>G | NP_001309900.1:n.199+3119A>G | |
| NM_001322974.1:c.-404A>G | NP_001309903.1:n.-404A>G | |
| XM_017016279.1:c.-2143A>G | XP_016871768.1:n.-2143A>G | |
| NM_000274.4:c.311A>G MANE Select | NP_000265.1:p.Gln104Arg | |
| NM_001322965.2:c.311A>G | NP_001309894.1:p.Gln104Arg | |
| NM_001322966.2:c.311A>G | NP_001309895.1:p.Gln104Arg | |
| NM_001322967.2:c.311A>G | NP_001309896.1:p.Gln104Arg | |
| NM_001322968.2:c.311A>G | NP_001309897.1:p.Gln104Arg | |
| NM_001322969.2:c.311A>G | NP_001309898.1:p.Gln104Arg | |
| NM_001322970.2:c.311A>G | NP_001309899.1:p.Gln104Arg | |
| NM_001322971.2:c.199+3119A>G | NP_001309900.1:n.199+3119A>G | |
| NM_001322974.2:c.-404A>G | NP_001309903.1:n.-404A>G | |
| NM_001171814.2:c.-104A>G | NP_001165285.1:n.-104A>G |