Linked Data
dbSNP Id:
rs758414235
ExAC:
16:4849731 G / C
gnomAD v2:
16-4849731-G-C
gnomAD v4:
16-4799730-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799730G>C , CM000678.2:g.4799730G>C | GRCh38 |
| NC_000016.9:g.4849731G>C , CM000678.1:g.4849731G>C | GRCh37 |
| NC_000016.8:g.4789732G>C | NCBI36 |
| NG_032174.1:g.8221C>G , LRG_455:g.8221C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.388C>G MANE Select | ENSP00000322832.6:p.Arg130Gly | |
| ENST00000322048.11:c.388C>G | ENSP00000322832.5:p.Arg130Gly | |
| ENST00000585653.1:n.520C>G | ||
| ENST00000586153.1:c.133C>G | ENSP00000464699.1:p.Arg45Gly | |
| ENST00000586336.5:n.487C>G | ||
| ENST00000586504.5:c.168C>G | ||
| ENST00000587377.5:c.388C>G | ENSP00000468343.1:p.Arg130Gly | |
| ENST00000587711.5:c.118-1063C>G | ENSP00000467459.1:n.118-1063C>G | |
| ENST00000587843.5:c.*126C>G | ENSP00000465970.1:n.*126C>G | |
| ENST00000588201.5:c.*245C>G | ENSP00000466529.1:n.*245C>G | |
| ENST00000589543.5:n.345C>G | ||
| ENST00000591292.5:n.1717C>G | ||
| ENST00000591392.5:c.316C>G | ENSP00000467509.1:p.Arg106Gly | |
| ENST00000592019.1:c.76+31C>G | ||
| NM_024589.2:c.388C>G , LRG_455t1:c.388C>G | NP_078865.1:p.Arg130Gly | |
| NR_046480.1:n.712C>G | ||
| XM_006720947.2:c.388C>G | XP_006721010.1:p.Arg130Gly | |
| XM_006720948.2:c.118C>G | XP_006721011.1:p.Arg40Gly | |
| XM_006720947.4:c.388C>G | XP_006721010.1:p.Arg130Gly | |
| XM_006720948.4:c.118C>G | XP_006721011.1:p.Arg40Gly | |
| NM_024589.3:c.388C>G MANE Select | NP_078865.1:p.Arg130Gly | |
| NR_046480.2:n.395C>G |