ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351409T>G , CM000679.2:g.44351409T>G | GRCh38 |
| NC_000017.10:g.42428777T>G , CM000679.1:g.42428777T>G | GRCh37 |
| NC_000017.9:g.39784303T>G | NCBI36 |
| NG_007886.1:g.11287T>G , LRG_661:g.11287T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.882T>G MANE Select | ENSP00000053867.2:p.Tyr294Ter | |
| ENST00000639447.1:c.882T>G | ENSP00000492014.1:p.Tyr294Ter | |
| ENST00000053867.7:c.882T>G | ENSP00000053867.2:p.Tyr294Ter | |
| ENST00000585348.1:n.499T>G | ||
| ENST00000586443.1:c.323T>G | ||
| ENST00000589265.5:c.463-141T>G | ENSP00000467616.1:n.463-141T>G | |
| ENST00000589923.1:n.140T>G | ||
| NM_002087.3:c.882T>G | NP_002078.1:p.Tyr294Ter | |
| XM_005257253.1:c.882T>G | XP_005257310.1:p.Tyr294Ter | |
| XM_024450730.1:c.882T>G | XP_024306498.1:p.Tyr294Ter | |
| NM_002087.4:c.882T>G MANE Select | NP_002078.1:p.Tyr294Ter |