Linked Data
ClinVar Variation Id:
159722
dbSNP Id:
rs706713
ExAC:
5:67522722 C / T
gnomAD v2:
5-67522722-C-T
gnomAD v3:
5-68226894-C-T
gnomAD v4:
5-68226894-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68226894C>T , CM000667.2:g.68226894C>T | GRCh38 |
| NC_000005.9:g.67522722C>T , CM000667.1:g.67522722C>T | GRCh37 |
| NC_000005.8:g.67558478C>T | NCBI36 |
| NG_012849.2:g.16139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517412.2:n.819C>T | ||
| ENST00000517643.2:c.219C>T | ENSP00000513333.1:p.Tyr73= | |
| ENST00000521657.6:c.219C>T | ENSP00000429277.1:p.Tyr73= | |
| ENST00000697457.1:c.219C>T | ENSP00000513315.1:p.Tyr73= | |
| ENST00000697458.1:c.219C>T | ENSP00000513316.1:p.Tyr73= | |
| ENST00000697459.1:n.436C>T | ||
| ENST00000697461.1:c.219C>T | ENSP00000513319.1:p.Tyr73= | |
| ENST00000697555.1:n.784C>T | ||
| ENST00000697556.1:c.219C>T | ENSP00000513334.1:p.Tyr73= | |
| ENST00000521381.6:c.219C>T MANE Select | ENSP00000428056.1:p.Tyr73= | |
| ENST00000517412.1:n.458C>T | ||
| ENST00000521381.5:c.219C>T | ENSP00000428056.1:p.Tyr73= | |
| ENST00000521657.5:c.219C>T | ENSP00000429277.1:p.Tyr73= | |
| NM_181523.2:c.219C>T | NP_852664.1:p.Tyr73= | |
| XM_005248542.2:c.219C>T | XP_005248599.1:p.Tyr73= | |
| XM_005248542.3:c.219C>T | XP_005248599.1:p.Tyr73= | |
| XM_017009585.2:c.219C>T | XP_016865074.1:p.Tyr73= | |
| NM_181523.3:c.219C>T MANE Select | NP_852664.1:p.Tyr73= |