Linked Data
dbSNP Id:
rs765443036
ExAC:
8:65517304 C / T
gnomAD v2:
8-65517304-C-T
gnomAD v4:
8-64604747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64604747C>T , CM000670.2:g.64604747C>T | GRCh38 |
| NC_000008.10:g.65517304C>T , CM000670.1:g.65517304C>T | GRCh37 |
| NC_000008.9:g.65679858C>T | NCBI36 |
| NG_008338.1:g.199045G>A | |
| NG_008338.2:g.199045G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.1168G>A MANE Select | ENSP00000310721.3:p.Gly390Arg | |
| ENST00000310193.3:c.1168G>A | ENSP00000310721.3:p.Gly390Arg | |
| ENST00000523954.1:n.442G>A | ||
| NM_004820.3:c.1168G>A | NP_004811.1:p.Gly390Arg | |
| NM_001324112.1:c.1168G>A | NP_001311041.1:p.Gly390Arg | |
| NM_004820.4:c.1168G>A | NP_004811.1:p.Gly390Arg | |
| XM_017014002.1:c.1234G>A | XP_016869491.1:p.Gly412Arg | |
| NM_004820.5:c.1168G>A MANE Select | NP_004811.1:p.Gly390Arg | |
| NM_001324112.2:c.1168G>A | NP_001311041.1:p.Gly390Arg |