Linked Data
ClinVar Variation Id:
377779
dbSNP Id:
rs116719245
ExAC:
2:220146459 C / T
gnomAD v2:
2-220146459-C-T
gnomAD v3:
2-219281737-C-T
gnomAD v4:
2-219281737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219281737C>T , CM000664.2:g.219281737C>T | GRCh38 |
| NC_000002.11:g.220146459C>T , CM000664.1:g.220146459C>T | GRCh37 |
| NC_000002.10:g.219854703C>T | NCBI36 |
| NG_029553.1:g.7420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683651.1:n.898C>T | ||
| ENST00000684599.1:n.402C>T | ||
| ENST00000336576.10:c.195C>T MANE Select | ENSP00000338019.5:p.Tyr65= | |
| ENST00000336576.9:c.195C>T | ENSP00000338019.5:p.Tyr65= | |
| ENST00000392086.8:c.195C>T | ENSP00000375936.4:p.Tyr65= | |
| ENST00000392087.6:c.195C>T | ENSP00000375937.2:p.Tyr65= | |
| ENST00000421532.5:c.195C>T | ENSP00000395173.1:p.Tyr65= | |
| ENST00000425450.5:c.195C>T | ENSP00000414796.1:p.Tyr65= | |
| ENST00000439026.1:c.195C>T | ENSP00000387951.1:p.Tyr65= | |
| ENST00000442681.5:c.195C>T | ENSP00000392790.1:p.Tyr65= | |
| ENST00000463463.5:n.186C>T | ||
| ENST00000477917.5:n.1413C>T | ||
| ENST00000480537.5:n.383C>T | ||
| ENST00000487855.1:n.95C>T | ||
| NM_001039550.1:c.195C>T | NP_001034639.1:p.Tyr65= | |
| NM_006736.5:c.195C>T | NP_006727.2:p.Tyr65= | |
| NM_001039550.2:c.195C>T | NP_001034639.1:p.Tyr65= | |
| NM_006736.6:c.195C>T MANE Select | NP_006727.2:p.Tyr65= |