Linked Data
dbSNP Id:
rs764217260
ExAC:
19:55820045 C / T
gnomAD v2:
19-55820045-C-T
gnomAD v4:
19-55308677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308677C>T , CM000681.2:g.55308677C>T | GRCh38 |
| NC_000019.9:g.55820045C>T , CM000681.1:g.55820045C>T | GRCh37 |
| NC_000019.8:g.60511857C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2128C>T MANE Select | ENSP00000310649.1:p.Gln710Ter | |
| ENST00000309383.5:c.2128C>T | ENSP00000310649.1:p.Gln710Ter | |
| ENST00000326848.7:c.1213C>T | ENSP00000320853.7:p.Gln405Ter | |
| ENST00000590333.5:c.2176C>T | ENSP00000468190.1:p.Gln726Ter | |
| NM_032430.1:c.2128C>T | NP_115806.1:p.Gln710Ter | |
| XM_005259327.2:c.1858C>T | XP_005259384.1:p.Gln620Ter | |
| XM_011527395.1:c.1885C>T | XP_011525697.1:p.Gln629Ter | |
| XR_430213.2:n.2111C>T | ||
| XM_005259327.3:c.1858C>T | XP_005259384.1:p.Gln620Ter | |
| XM_011527395.2:c.1600C>T | XP_011525697.2:p.Gln534Ter | |
| XM_024451739.1:c.1903C>T | XP_024307507.1:p.Gln635Ter | |
| XR_430213.4:n.2409C>T | ||
| NM_032430.2:c.2128C>T MANE Select | NP_115806.1:p.Gln710Ter |