Linked Data
dbSNP Id:
rs759820361
ExAC:
19:55820018 C / T
gnomAD v2:
19-55820018-C-T
gnomAD v4:
19-55308650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308650C>T , CM000681.2:g.55308650C>T | GRCh38 |
| NC_000019.9:g.55820018C>T , CM000681.1:g.55820018C>T | GRCh37 |
| NC_000019.8:g.60511830C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2101C>T MANE Select | ENSP00000310649.1:p.Arg701Trp | |
| ENST00000309383.5:c.2101C>T | ENSP00000310649.1:p.Arg701Trp | |
| ENST00000326848.7:c.1186C>T | ENSP00000320853.7:p.Arg396Trp | |
| ENST00000590333.5:c.2149C>T | ENSP00000468190.1:p.Arg717Trp | |
| NM_032430.1:c.2101C>T | NP_115806.1:p.Arg701Trp | |
| XM_005259327.2:c.1831C>T | XP_005259384.1:p.Arg611Trp | |
| XM_011527395.1:c.1858C>T | XP_011525697.1:p.Arg620Trp | |
| XR_430213.2:n.2084C>T | ||
| XM_005259327.3:c.1831C>T | XP_005259384.1:p.Arg611Trp | |
| XM_011527395.2:c.1573C>T | XP_011525697.2:p.Arg525Trp | |
| XM_024451739.1:c.1876C>T | XP_024307507.1:p.Arg626Trp | |
| XR_430213.4:n.2382C>T | ||
| NM_032430.2:c.2101C>T MANE Select | NP_115806.1:p.Arg701Trp |