Linked Data
ClinVar Variation Id:
375407
ClinVar RCV Id:
RCV000416454
dbSNP Id:
rs1057519469
gnomAD v4:
2-218812926-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812926A>T , CM000664.2:g.218812926A>T | GRCh38 |
| NC_000002.11:g.219677649A>T , CM000664.1:g.219677649A>T | GRCh37 |
| NC_000002.10:g.219385893A>T | NCBI36 |
| NG_007959.1:g.36178A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.847A>T MANE Select | ENSP00000258415.4:p.Lys283Ter | |
| ENST00000258415.8:c.847A>T | ENSP00000258415.4:p.Lys283Ter | |
| ENST00000411688.1:c.565A>T | ENSP00000392671.1:p.Lys189Ter | |
| ENST00000445971.1:c.*308A>T | ENSP00000404945.1:n.*308A>T | |
| ENST00000466602.1:n.969A>T | ||
| ENST00000494263.5:n.1281A>T | ||
| NM_000784.3:c.847A>T | NP_000775.1:p.Lys283Ter | |
| XM_017003488.2:c.427A>T | XP_016858977.1:p.Lys143Ter | |
| NM_000784.4:c.847A>T MANE Select | NP_000775.1:p.Lys283Ter |