Linked Data
ClinVar Variation Id:
446195
ClinVar RCV Id:
RCV001712573
dbSNP Id:
rs1800447
ExAC:
19:49519905 A / G
gnomAD v2:
19-49519905-A-G
gnomAD v3:
19-49016648-A-G
gnomAD v4:
19-49016648-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016648A>G , CM000681.2:g.49016648A>G | GRCh38 |
| NC_000019.9:g.49519905A>G , CM000681.1:g.49519905A>G | GRCh37 |
| NC_000019.8:g.54211717A>G | NCBI36 |
| NG_011464.1:g.5443T>C | |
| NG_033041.1:g.27750A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649238.3:c.82T>C MANE Select | ENSP00000497294.2:p.Trp28Arg | |
| ENST00000649284.1:n.173T>C | ||
| ENST00000221421.6:c.82T>C | ENSP00000221421.1:p.Trp28Arg | |
| ENST00000391869.4:c.76T>C | ENSP00000375742.4:p.Trp26Arg | |
| NM_000894.2:c.82T>C | NP_000885.1:p.Trp28Arg | |
| XM_011526975.1:c.130T>C | XP_011525277.1:p.Trp44Arg | |
| NM_000894.3:c.82T>C MANE Select | NP_000885.1:p.Trp28Arg |