gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.625917C>A , CM000666.2:g.625917C>A | GRCh38 |
| NC_000004.11:g.619706C>A , CM000666.1:g.619706C>A | GRCh37 |
| NC_000004.10:g.609706C>A | NCBI36 |
| NG_009839.1:g.5344C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.291C>A MANE Select | ENSP00000420295.1:p.Tyr97Ter | |
| ENST00000255622.10:c.291C>A | ENSP00000255622.6:p.Tyr97Ter | |
| ENST00000496514.5:c.291C>A | ENSP00000420295.1:p.Tyr97Ter | |
| NM_000283.3:c.291C>A | NP_000274.2:p.Tyr97Ter | |
| NM_001145291.1:c.291C>A | NP_001138763.1:p.Tyr97Ter | |
| XM_011513473.1:c.510C>A | XP_011511775.1:p.Tyr170Ter | |
| XM_011513474.1:c.510C>A | XP_011511776.1:p.Tyr170Ter | |
| XM_011513475.1:c.291C>A | XP_011511777.1:p.Tyr97Ter | |
| XM_011513476.1:c.510C>A | XP_011511778.1:p.Tyr170Ter | |
| XM_011513473.3:c.510C>A | XP_011511775.1:p.Tyr170Ter | |
| XM_011513474.3:c.510C>A | XP_011511776.1:p.Tyr170Ter | |
| XM_011513475.2:c.291C>A | XP_011511777.1:p.Tyr97Ter | |
| XM_011513476.3:c.510C>A | XP_011511778.1:p.Tyr170Ter | |
| NM_000283.4:c.291C>A MANE Select | NP_000274.3:p.Tyr97Ter | |
| NM_001145291.2:c.291C>A | NP_001138763.2:p.Tyr97Ter |