Linked Data
dbSNP Id:
rs2088706606
gnomAD v4:
19-55308721-C-T
MyVariant Identifiers:
chr19:g.55820089C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308721C>T , CM000681.2:g.55308721C>T | GRCh38 |
| NC_000019.9:g.55820089C>T , CM000681.1:g.55820089C>T | GRCh37 |
| NC_000019.8:g.60511901C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2172C>T MANE Select | ENSP00000310649.1:p.Ala724= | |
| ENST00000309383.5:c.2172C>T | ENSP00000310649.1:p.Ala724= | |
| ENST00000326848.7:c.1257C>T | ENSP00000320853.7:p.Ala419= | |
| ENST00000590333.5:c.2220C>T | ENSP00000468190.1:p.Ala740= | |
| NM_032430.1:c.2172C>T | NP_115806.1:p.Ala724= | |
| XM_005259327.2:c.1902C>T | XP_005259384.1:p.Ala634= | |
| XM_011527395.1:c.1929C>T | XP_011525697.1:p.Ala643= | |
| XR_430213.2:n.2155C>T | ||
| XM_005259327.3:c.1902C>T | XP_005259384.1:p.Ala634= | |
| XM_011527395.2:c.1644C>T | XP_011525697.2:p.Ala548= | |
| XM_024451739.1:c.1947C>T | XP_024307507.1:p.Ala649= | |
| XR_430213.4:n.2453C>T | ||
| NM_032430.2:c.2172C>T MANE Select | NP_115806.1:p.Ala724= |