Linked Data
ClinVar Variation Id:
436315
dbSNP Id:
rs374140006
ExAC:
5:67575479 C / T
gnomAD v2:
5-67575479-C-T
gnomAD v3:
5-68279651-C-T
gnomAD v4:
5-68279651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68279651C>T , CM000667.2:g.68279651C>T | GRCh38 |
| NC_000005.9:g.67575479C>T , CM000667.1:g.67575479C>T | GRCh37 |
| NC_000005.8:g.67611235C>T | NCBI36 |
| NG_012849.2:g.68896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517643.2:c.552C>T | ENSP00000513333.1:p.Asp184= | |
| ENST00000521657.6:c.552C>T | ENSP00000429277.1:p.Asp184= | |
| ENST00000697457.1:c.477C>T | ENSP00000513315.1:p.Asp159= | |
| ENST00000697458.1:c.552C>T | ENSP00000513316.1:p.Asp184= | |
| ENST00000697460.1:c.27C>T | ENSP00000513318.1:p.Asp9= | |
| ENST00000697461.1:c.552C>T | ENSP00000513319.1:p.Asp184= | |
| ENST00000697556.1:c.459C>T | ENSP00000513334.1:p.Asp153= | |
| ENST00000521381.6:c.552C>T MANE Select | ENSP00000428056.1:p.Asp184= | |
| ENST00000520675.1:c.258C>T | ENSP00000428566.1:p.Asp86= | |
| ENST00000521381.5:c.552C>T | ENSP00000428056.1:p.Asp184= | |
| ENST00000521657.5:c.552C>T | ENSP00000429277.1:p.Asp184= | |
| NM_181523.2:c.552C>T | NP_852664.1:p.Asp184= | |
| XM_005248542.2:c.552C>T | XP_005248599.1:p.Asp184= | |
| XM_011543493.1:c.225C>T | XP_011541795.1:p.Asp75= | |
| XM_005248542.3:c.552C>T | XP_005248599.1:p.Asp184= | |
| XM_011543493.3:c.225C>T | XP_011541795.1:p.Asp75= | |
| XM_017009585.2:c.552C>T | XP_016865074.1:p.Asp184= | |
| XM_017009586.1:c.279C>T | XP_016865075.1:p.Asp93= | |
| NM_181523.3:c.552C>T MANE Select | NP_852664.1:p.Asp184= |