Linked Data
gnomAD v4:
X-154993072-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993072A>T , CM000685.2:g.154993072A>T | GRCh38 |
| NC_000023.10:g.154221347A>T , CM000685.1:g.154221347A>T | GRCh37 |
| NC_000023.9:g.153874541A>T | NCBI36 |
| NG_011403.1:g.34652T>A | |
| NG_011403.2:g.34652T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.465T>A MANE Select | ENSP00000353393.4:p.Tyr155Ter | |
| ENST00000647125.1:c.*251T>A | ENSP00000496062.1:n.*251T>A | |
| ENST00000360256.8:c.465T>A | ENSP00000353393.4:p.Tyr155Ter | |
| ENST00000423959.5:c.360T>A | ENSP00000409446.1:p.Tyr120Ter | |
| ENST00000453950.1:c.447T>A | ENSP00000389153.1:p.Tyr149Ter | |
| NM_000132.3:c.465T>A | NP_000123.1:p.Tyr155Ter | |
| XM_011531126.1:c.360T>A | XP_011529428.1:p.Tyr120Ter | |
| NM_000132.4:c.465T>A MANE Select | NP_000123.1:p.Tyr155Ter |