Linked Data
ClinVar Variation Id:
1539394
ClinVar RCV Id:
RCV002169600
dbSNP Id:
rs748914335
ExAC:
10:50732615 C / T
gnomAD v2:
10-50732615-C-T
gnomAD v4:
10-49524569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524569C>T , CM000672.2:g.49524569C>T | GRCh38 |
| NC_000010.10:g.50732615C>T , CM000672.1:g.50732615C>T | GRCh37 |
| NC_000010.9:g.50402621C>T | NCBI36 |
| NG_009442.1:g.19533G>A , LRG_465:g.19533G>A | |
| NG_033155.1:g.4713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.861G>A MANE Select | ENSP00000348089.5:p.Lys287= | |
| ENST00000447839.7:c.861G>A MANE Plus Clinical | ENSP00000387966.2:p.Lys287= | |
| ENST00000679596.1:c.*490G>A | ENSP00000504862.1:n.*490G>A | |
| ENST00000679811.1:n.944G>A | ||
| ENST00000680107.1:c.652+3848G>A | ENSP00000505909.1:n.652+3848G>A | |
| ENST00000680233.1:n.954G>A | ||
| ENST00000681632.1:n.939G>A | ||
| ENST00000681659.1:c.861G>A | ENSP00000505631.1:p.Lys287= | |
| ENST00000355832.9:c.861G>A | ENSP00000348089.5:p.Lys287= | |
| ENST00000447839.6:c.861G>A | ENSP00000387966.2:p.Lys287= | |
| ENST00000515869.1:c.861G>A | ENSP00000423550.1:p.Lys287= | |
| NM_000124.3:c.861G>A | NP_000115.1:p.Lys287= | |
| NM_001277058.1:c.861G>A | NP_001263987.1:p.Lys287= | |
| NM_001277059.1:c.861G>A | NP_001263988.1:p.Lys287= | |
| NM_001346440.1:c.861G>A | NP_001333369.1:p.Lys287= | |
| NM_000124.4:c.861G>A MANE Select | NP_000115.1:p.Lys287= | |
| NM_001277058.2:c.861G>A MANE Plus Clinical | NP_001263987.1:p.Lys287= | |
| NM_001277059.2:c.861G>A | NP_001263988.1:p.Lys287= | |
| NM_001346440.2:c.861G>A | NP_001333369.1:p.Lys287= |