Linked Data
ClinVar Variation Id:
1258177
dbSNP Id:
rs1056917
ExAC:
19:49519466 A / G
gnomAD v2:
19-49519466-A-G
gnomAD v3:
19-49016209-A-G
gnomAD v4:
19-49016209-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016209A>G , CM000681.2:g.49016209A>G | GRCh38 |
| NC_000019.9:g.49519466A>G , CM000681.1:g.49519466A>G | GRCh37 |
| NC_000019.8:g.54211278A>G | NCBI36 |
| NG_011464.1:g.5882T>C | |
| NG_033041.1:g.27311A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649238.3:c.285T>C MANE Select | ENSP00000497294.2:p.Gly95= | |
| ENST00000649284.1:n.376T>C | ||
| ENST00000221421.6:c.285T>C | ENSP00000221421.1:p.Gly95= | |
| ENST00000391869.4:c.279T>C | ENSP00000375742.4:p.Gly93= | |
| NM_000894.2:c.285T>C | NP_000885.1:p.Gly95= | |
| XM_011526975.1:c.333T>C | XP_011525277.1:p.Gly111= | |
| NM_000894.3:c.285T>C MANE Select | NP_000885.1:p.Gly95= |