Linked Data
dbSNP Id:
rs549857076
ExAC:
2:73717091 C / G
gnomAD v2:
2-73717091-C-G
gnomAD v3:
2-73489964-C-G
gnomAD v4:
2-73489964-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489964C>G , CM000664.2:g.73489964C>G | GRCh38 |
| NC_000002.11:g.73717091C>G , CM000664.1:g.73717091C>G | GRCh37 |
| NC_000002.10:g.73570599C>G | NCBI36 |
| NG_011690.1:g.109212C>G , LRG_741:g.109212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7624C>G | ENSP00000507671.1:p.Arg2542Gly | |
| ENST00000682801.1:c.7624C>G | ENSP00000507862.1:p.Arg2542Gly | |
| ENST00000682859.1:c.7624C>G | ENSP00000508222.1:p.Arg2542Gly | |
| ENST00000683791.1:c.1016C>G | ||
| ENST00000684460.1:c.5076C>G | ||
| ENST00000684548.1:c.7624C>G | ENSP00000507421.1:p.Arg2542Gly | |
| ENST00000684590.1:c.2071C>G | ENSP00000507376.1:p.Arg691Gly | |
| ENST00000684656.1:c.5076C>G | ||
| ENST00000613296.6:c.8005C>G MANE Select | ENSP00000482968.1:p.Arg2669Gly | |
| ENST00000651434.1:c.896-29811C>G | ||
| ENST00000423048.5:c.2836C>G | ENSP00000399833.1:p.Arg946Gly | |
| ENST00000484298.5:c.7879C>G | ENSP00000478155.1:p.Arg2627Gly | |
| ENST00000613296.4:c.8005C>G | ENSP00000482968.1:p.Arg2669Gly | |
| ENST00000614410.4:c.8005C>G | ENSP00000479094.1:p.Arg2669Gly | |
| ENST00000620466.4:n.1808C>G | ||
| NM_015120.4:c.8008C>G , LRG_741t1:c.8008C>G | NP_055935.4:p.Arg2670Gly | |
| NM_001378454.1:c.8005C>G MANE Select | NP_001365383.1:p.Arg2669Gly |