Linked Data
ClinVar Variation Id:
1279733
dbSNP Id:
rs494620
ExAC:
6:31838713 G / A
gnomAD v2:
6-31838713-G-A
gnomAD v3:
6-31870936-G-A
gnomAD v4:
6-31870936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31870936G>A , CM000668.2:g.31870936G>A | GRCh38 |
| NC_000006.11:g.31838713G>A , CM000668.1:g.31838713G>A | GRCh37 |
| NC_000006.10:g.31946692G>A | NCBI36 |
| NG_023058.1:g.13111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229729.11:c.813C>T MANE Select | ENSP00000229729.6:p.Tyr271= | |
| ENST00000229729.10:c.813C>T | ENSP00000229729.6:p.Tyr271= | |
| ENST00000375562.8:c.687C>T | ENSP00000364712.4:p.Tyr229= | |
| ENST00000414427.1:c.688+378C>T | ||
| ENST00000475563.1:n.309C>T | ||
| ENST00000479777.1:n.267C>T | ||
| ENST00000544672.5:c.585C>T | ENSP00000444109.1:p.Tyr195= | |
| NM_001178044.1:c.687C>T | NP_001171515.1:p.Tyr229= | |
| NM_001178045.1:c.585C>T | NP_001171516.1:p.Tyr195= | |
| NM_025257.2:c.813C>T | NP_079533.2:p.Tyr271= | |
| NM_025257.3:c.813C>T MANE Select | NP_079533.2:p.Tyr271= | |
| NM_001178044.2:c.687C>T | NP_001171515.1:p.Tyr229= | |
| NM_001178045.2:c.585C>T | NP_001171516.1:p.Tyr195= |