Linked Data
ClinVar Variation Id:
348297
dbSNP Id:
rs760001831
gnomAD v2:
4-187113140-C-A
gnomAD v3:
4-186191986-C-A
gnomAD v4:
4-186191986-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191986C>A , CM000666.2:g.186191986C>A | GRCh38 |
| NC_000004.11:g.187113140C>A , CM000666.1:g.187113140C>A | GRCh37 |
| NC_000004.10:g.187350134C>A | NCBI36 |
| NG_007965.1:g.5467C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.163C>A MANE Select | ENSP00000368079.4:p.Arg55Ser | |
| ENST00000378802.4:c.163C>A | ENSP00000368079.4:p.Arg55Ser | |
| NM_207352.3:c.163C>A | NP_997235.3:p.Arg55Ser | |
| XM_005262935.2:c.163C>A | XP_005262992.1:p.Arg55Ser | |
| XM_005262935.4:c.163C>A | XP_005262992.1:p.Arg55Ser | |
| XM_017008037.1:c.-148C>A | XP_016863526.1:n.-148C>A | |
| NM_207352.4:c.163C>A MANE Select | NP_997235.3:p.Arg55Ser |