Linked Data
ClinVar Variation Id:
29881
ClinVar RCV Id:
RCV000408654
dbSNP Id:
rs387906682
PubMed:
PMID:21165652
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31489034C>G , CM000678.2:g.31489034C>G | GRCh38 |
| NC_000016.9:g.31500355C>G , CM000678.1:g.31500355C>G | GRCh37 |
| NC_000016.8:g.31407856C>G | NCBI36 |
| NG_012892.1:g.10917C>G | |
| NG_033149.1:g.24386G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330498.4:c.1435C>G MANE Select | ENSP00000327943.3:p.Arg479Gly | |
| ENST00000330498.3:c.1435C>G | ENSP00000327943.3:p.Arg479Gly | |
| ENST00000419665.6:c.1130-89C>G | ENSP00000410601.2:n.1130-89C>G | |
| ENST00000568188.1:n.806C>G | ||
| ENST00000568891.1:n.282-89C>G | ||
| NM_003041.3:c.1435C>G | NP_003032.1:p.Arg479Gly | |
| NR_130783.1:n.1149-89C>G | ||
| XM_006721072.2:c.1456C>G | XP_006721135.2:p.Arg486Gly | |
| XM_006721073.2:c.1302-89C>G | XP_006721136.2:n.1302-89C>G | |
| XM_006721072.4:c.1456C>G | XP_006721135.2:p.Arg486Gly | |
| XM_024450402.1:c.1151-89C>G | XP_024306170.1:n.1151-89C>G | |
| NM_003041.4:c.1435C>G MANE Select | NP_003032.1:p.Arg479Gly | |
| NR_130783.2:n.1144-89C>G |