Linked Data
dbSNP Id:
rs749323416
ExAC:
8:18257863 G / C
gnomAD v2:
8-18257863-G-C
gnomAD v4:
8-18400353-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400353G>C , CM000670.2:g.18400353G>C | GRCh38 |
| NC_000008.10:g.18257863G>C , CM000670.1:g.18257863G>C | GRCh37 |
| NC_000008.9:g.18302143G>C | NCBI36 |
| NG_012246.1:g.14109G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.350G>C MANE Select | ENSP00000286479.3:p.Arg117Thr | |
| ENST00000286479.3:c.350G>C | ENSP00000286479.3:p.Arg117Thr | |
| ENST00000520116.1:c.-41G>C | ENSP00000428416.1:n.-41G>C | |
| NM_000015.2:c.350G>C | NP_000006.2:p.Arg117Thr | |
| XM_011544358.1:c.350G>C | XP_011542660.1:p.Arg117Thr | |
| XM_017012938.1:c.350G>C | XP_016868427.1:p.Arg117Thr | |
| NM_000015.3:c.350G>C MANE Select | NP_000006.2:p.Arg117Thr |