gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31870936G>T , CM000668.2:g.31870936G>T | GRCh38 |
| NC_000006.11:g.31838713G>T , CM000668.1:g.31838713G>T | GRCh37 |
| NC_000006.10:g.31946692G>T | NCBI36 |
| NG_023058.1:g.13111C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229729.11:c.813C>A MANE Select | ENSP00000229729.6:p.Tyr271Ter | |
| ENST00000229729.10:c.813C>A | ENSP00000229729.6:p.Tyr271Ter | |
| ENST00000375562.8:c.687C>A | ENSP00000364712.4:p.Tyr229Ter | |
| ENST00000414427.1:c.688+378C>A | ||
| ENST00000475563.1:n.309C>A | ||
| ENST00000479777.1:n.267C>A | ||
| ENST00000544672.5:c.585C>A | ENSP00000444109.1:p.Tyr195Ter | |
| NM_001178044.1:c.687C>A | NP_001171515.1:p.Tyr229Ter | |
| NM_001178045.1:c.585C>A | NP_001171516.1:p.Tyr195Ter | |
| NM_025257.2:c.813C>A | NP_079533.2:p.Tyr271Ter | |
| NM_025257.3:c.813C>A MANE Select | NP_079533.2:p.Tyr271Ter | |
| NM_001178044.2:c.687C>A | NP_001171515.1:p.Tyr229Ter | |
| NM_001178045.2:c.585C>A | NP_001171516.1:p.Tyr195Ter |