Linked Data
dbSNP Id:
rs2088706161
gnomAD v3:
19-55308694-C-T
gnomAD v4:
19-55308694-C-T
MyVariant Identifiers:
chr19:g.55820062C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308694C>T , CM000681.2:g.55308694C>T | GRCh38 |
| NC_000019.9:g.55820062C>T , CM000681.1:g.55820062C>T | GRCh37 |
| NC_000019.8:g.60511874C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2145C>T MANE Select | ENSP00000310649.1:p.Ser715= | |
| ENST00000309383.5:c.2145C>T | ENSP00000310649.1:p.Ser715= | |
| ENST00000326848.7:c.1230C>T | ENSP00000320853.7:p.Ser410= | |
| ENST00000590333.5:c.2193C>T | ENSP00000468190.1:p.Ser731= | |
| NM_032430.1:c.2145C>T | NP_115806.1:p.Ser715= | |
| XM_005259327.2:c.1875C>T | XP_005259384.1:p.Ser625= | |
| XM_011527395.1:c.1902C>T | XP_011525697.1:p.Ser634= | |
| XR_430213.2:n.2128C>T | ||
| XM_005259327.3:c.1875C>T | XP_005259384.1:p.Ser625= | |
| XM_011527395.2:c.1617C>T | XP_011525697.2:p.Ser539= | |
| XM_024451739.1:c.1920C>T | XP_024307507.1:p.Ser640= | |
| XR_430213.4:n.2426C>T | ||
| NM_032430.2:c.2145C>T MANE Select | NP_115806.1:p.Ser715= |