Linked Data
ClinVar Variation Id:
1441303
ClinVar RCV Id:
RCV001979076
dbSNP Id:
rs540753875
gnomAD v3:
1-15445735-G-T
gnomAD v4:
1-15445735-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445735G>T , CM000663.2:g.15445735G>T | GRCh38 |
| NC_000001.10:g.15772230G>T , CM000663.1:g.15772230G>T | GRCh37 |
| NC_000001.9:g.15644817G>T | NCBI36 |
| NG_009253.1:g.12293G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.778G>T MANE Select | ENSP00000365116.4:p.Asp260Tyr | |
| ENST00000375943.6:c.*232G>T | ENSP00000365110.2:n.*232G>T | |
| ENST00000375949.4:c.778G>T | ENSP00000365116.4:p.Asp260Tyr | |
| ENST00000483406.1:n.542G>T | ||
| NM_007272.2:c.778G>T | NP_009203.2:p.Asp260Tyr | |
| XM_011540550.1:c.632G>T | XP_011538852.1:p.Arg211Leu | |
| NM_007272.3:c.778G>T MANE Select | NP_009203.2:p.Asp260Tyr |