Linked Data
dbSNP Id:
rs1774432178
gnomAD v3:
5-70049697-C-T
gnomAD v4:
5-70049697-C-T
MyVariant Identifiers:
chr5:g.69345524C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70049697C>T , CM000667.2:g.70049697C>T | GRCh38 |
| NC_000005.9:g.69345524C>T , CM000667.1:g.69345524C>T | GRCh37 |
| NC_000005.8:g.69381280C>T | NCBI36 |
| NG_008728.1:g.5175C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380743.9:c.12C>T MANE Select | ENSP00000370119.4:p.Ser4= | |
| ENST00000638794.1:c.12C>T | ENSP00000492675.1:p.Ser4= | |
| ENST00000380741.8:c.12C>T | ENSP00000370117.5:p.Ser4= | |
| ENST00000380742.8:c.12C>T | ENSP00000370118.4:p.Ser4= | |
| ENST00000380743.8:c.12C>T | ENSP00000370119.4:p.Ser4= | |
| ENST00000506734.5:c.12C>T | ENSP00000424799.1:p.Ser4= | |
| ENST00000511812.5:c.12C>T | ENSP00000424282.1:p.Ser4= | |
| ENST00000614240.4:c.12C>T | ENSP00000479279.1:p.Ser4= | |
| ENST00000626847.2:c.12C>T | ENSP00000486152.1:p.Ser4= | |
| ENST00000628696.2:c.12C>T | ENSP00000486268.1:p.Ser4= | |
| NM_017411.3:c.12C>T | NP_059107.1:p.Ser4= | |
| NM_022875.2:c.12C>T | NP_075013.1:p.Ser4= | |
| NM_022876.2:c.12C>T | NP_075014.1:p.Ser4= | |
| NM_022877.2:c.12C>T | NP_075015.1:p.Ser4= | |
| XM_011543599.1:c.12C>T | XP_011541901.1:p.Ser4= | |
| XM_011543600.1:c.12C>T | XP_011541902.1:p.Ser4= | |
| XM_011543601.1:c.12C>T | XP_011541903.1:p.Ser4= | |
| XM_011543602.1:c.12C>T | XP_011541904.1:p.Ser4= | |
| XM_011543603.1:c.12C>T | XP_011541905.1:p.Ser4= | |
| XR_948432.1:n.1054+61693C>T | ||
| XM_011543600.2:c.12C>T | XP_011541902.1:p.Ser4= | |
| XM_011543602.3:c.12C>T | XP_011541904.1:p.Ser4= | |
| XM_011543603.3:c.12C>T | XP_011541905.1:p.Ser4= | |
| XM_017009787.1:c.12C>T | XP_016865276.1:p.Ser4= | |
| NM_017411.4:c.12C>T MANE Select | NP_059107.1:p.Ser4= | |
| NM_022875.3:c.12C>T | NP_075013.1:p.Ser4= |