Linked Data
ClinVar Variation Id:
14241
ClinVar RCV Id:
RCV000015309
dbSNP Id:
rs199422222
gnomAD v4:
4-99608977-G-T
PubMed:
PMID:12630961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99608977G>T , CM000666.2:g.99608977G>T | GRCh38 |
| NC_000004.11:g.100530134G>T , CM000666.1:g.100530134G>T | GRCh37 |
| NC_000004.10:g.100749157G>T | NCBI36 |
| NG_011469.1:g.49895G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.1769G>T MANE Select | ENSP00000265517.5:p.Ser590Ile | |
| ENST00000457717.6:c.1769G>T | ENSP00000400821.1:p.Ser590Ile | |
| ENST00000511045.6:c.1520G>T | ENSP00000427679.2:p.Ser507Ile | |
| ENST00000265517.9:c.1769G>T | ENSP00000265517.5:p.Ser590Ile | |
| ENST00000457717.5:c.1769G>T | ENSP00000400821.1:p.Ser590Ile | |
| ENST00000511045.5:c.1850G>T | ENSP00000427679.1:p.Ser617Ile | |
| ENST00000619629.1:c.*216G>T | ENSP00000482850.1:n.*216G>T | |
| NM_000253.3:c.1769G>T | NP_000244.2:p.Ser590Ile | |
| NM_001300785.1:c.1850G>T | NP_001287714.1:p.Ser617Ile | |
| NM_000253.4:c.1769G>T | NP_000244.2:p.Ser590Ile | |
| NM_001300785.2:c.1520G>T | NP_001287714.2:p.Ser507Ile | |
| NM_001386140.1:c.1769G>T MANE Select | NP_001373069.1:p.Ser590Ile |