Linked Data
dbSNP Id:
rs369521689
ExAC:
16:31121555 C / A
gnomAD v2:
16-31121555-C-A
gnomAD v3:
16-31110234-C-A
gnomAD v4:
16-31110234-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31110234C>A , CM000678.2:g.31110234C>A | GRCh38 |
| NC_000016.9:g.31121555C>A , CM000678.1:g.31121555C>A | GRCh37 |
| NC_000016.8:g.31029056C>A | NCBI36 |
| NG_033011.1:g.6941C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219794.11:c.453C>A MANE Select | ENSP00000219794.6:p.Tyr151Ter | |
| ENST00000219794.10:c.453C>A | ENSP00000219794.6:p.Tyr151Ter | |
| ENST00000287507.7:c.453C>A | ENSP00000287507.3:p.Tyr151Ter | |
| ENST00000394950.7:c.453C>A | ENSP00000378404.3:p.Tyr151Ter | |
| ENST00000394951.5:c.453C>A | ENSP00000378405.1:p.Tyr151Ter | |
| ENST00000484226.2:c.426C>A | ENSP00000457226.1:p.Tyr142Ter | |
| ENST00000566568.1:n.954C>A | ||
| ENST00000567530.5:c.453C>A | ENSP00000456479.1:p.Tyr151Ter | |
| NM_001122957.2:c.453C>A | NP_001116429.1:p.Tyr151Ter | |
| NM_001271926.1:c.453C>A | NP_001258855.1:p.Tyr151Ter | |
| NM_005881.3:c.453C>A | NP_005872.2:p.Tyr151Ter | |
| XM_017022859.1:c.453C>A | XP_016878348.1:p.Tyr151Ter | |
| NM_005881.4:c.453C>A MANE Select | NP_005872.2:p.Tyr151Ter | |
| NM_001122957.3:c.453C>A | NP_001116429.1:p.Tyr151Ter | |
| NM_001271926.2:c.453C>A | NP_001258855.1:p.Tyr151Ter | |
| NM_001122957.4:c.453C>A | NP_001116429.1:p.Tyr151Ter | |
| NM_001271926.3:c.453C>A | NP_001258855.1:p.Tyr151Ter |