Linked Data
dbSNP Id:
rs769458356
ExAC:
9:38396928 G / C
gnomAD v2:
9-38396928-G-C
gnomAD v4:
9-38396931-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396931G>C , CM000671.2:g.38396931G>C | GRCh38 |
| NC_000009.11:g.38396928G>C , CM000671.1:g.38396928G>C | GRCh37 |
| NC_000009.10:g.38386928G>C | NCBI36 |
| NG_012253.1:g.9227G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.1183G>C MANE Select | ENSP00000366927.3:p.Gly395Arg | |
| ENST00000377698.3:c.1183G>C | ENSP00000366927.3:p.Gly395Arg | |
| NM_000692.4:c.1183G>C | NP_000683.3:p.Gly395Arg | |
| XM_011517802.1:c.1183G>C | XP_011516104.1:p.Gly395Arg | |
| XM_011517802.2:c.1183G>C | XP_011516104.1:p.Gly395Arg | |
| NM_000692.5:c.1183G>C MANE Select | NP_000683.3:p.Gly395Arg |