Linked Data
dbSNP Id:
rs758667137
ExAC:
5:176831500 C / T
gnomAD v2:
5-176831500-C-T
gnomAD v3:
5-177404499-C-T
gnomAD v4:
5-177404499-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404499C>T , CM000667.2:g.177404499C>T | GRCh38 |
| NC_000005.9:g.176831500C>T , CM000667.1:g.176831500C>T | GRCh37 |
| NC_000005.8:g.176764106C>T | NCBI36 |
| NG_007568.1:g.10078G>A , LRG_145:g.10078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*466G>A (F12) | ENSP00000512476.1:n.*466G>A | |
| ENST00000696193.1:c.*1170G>A (F12) | ENSP00000512477.1:n.*1170G>A | |
| ENST00000696194.1:c.*390G>A (F12) | ENSP00000512478.1:n.*390G>A | |
| ENST00000696195.1:n.3603G>A (F12) | ||
| ENST00000696200.1:n.903G>A (F12) | ||
| ENST00000696201.1:c.800G>A (F12) | ENSP00000512482.1:p.Arg267Gln | |
| ENST00000253496.4:c.800G>A (F12) MANE Select | ENSP00000253496.3:p.Arg267Gln | |
| ENST00000253496.3:c.800G>A (F12) | ENSP00000253496.3:p.Arg267Gln | |
| ENST00000502598.5:c.-45+973C>T (GRK6) | ENSP00000422873.1:n.-45+973C>T | |
| ENST00000503736.1:n.173-86G>A (F12) | ||
| ENST00000506296.5:c.-103C>T (GRK6) | ENSP00000421055.1:n.-103C>T | |
| NM_000505.3:c.800G>A , LRG_145t1:c.800G>A (F12) | NP_000496.2:p.Arg267Gln | |
| XM_011534461.1:c.800G>A (F12) | XP_011532763.1:p.Arg267Gln | |
| XM_011534462.1:c.464G>A (F12) | XP_011532764.1:p.Arg155Gln | |
| XM_011534462.2:c.464G>A (F12) | XP_011532764.1:p.Arg155Gln | |
| XM_017009773.2:c.1417-7265C>T (SLC34A1) | XP_016865262.1:n.1417-7265C>T | |
| NM_000505.4:c.800G>A (F12) MANE Select | NP_000496.2:p.Arg267Gln |