Linked Data
dbSNP Id:
rs528776938
ExAC:
19:49519411 G / A
gnomAD v2:
19-49519411-G-A
gnomAD v3:
19-49016154-G-A
gnomAD v4:
19-49016154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016154G>A , CM000681.2:g.49016154G>A | GRCh38 |
| NC_000019.9:g.49519411G>A , CM000681.1:g.49519411G>A | GRCh37 |
| NC_000019.8:g.54211223G>A | NCBI36 |
| NG_011464.1:g.5937C>T | |
| NG_033041.1:g.27256G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.340C>T MANE Select | ENSP00000497294.2:p.Arg114Cys | |
| ENST00000649284.1:n.431C>T | ||
| ENST00000221421.6:c.340C>T | ENSP00000221421.1:p.Arg114Cys | |
| ENST00000391869.4:c.334C>T | ENSP00000375742.4:p.Arg112Cys | |
| NM_000894.2:c.340C>T | NP_000885.1:p.Arg114Cys | |
| XM_011526975.1:c.388C>T | XP_011525277.1:p.Arg130Cys | |
| NM_000894.3:c.340C>T MANE Select | NP_000885.1:p.Arg114Cys |