Linked Data
dbSNP Id:
rs1243472258
gnomAD v2:
4-186064643-G-T
gnomAD v4:
4-185143489-G-T
COSMIC:
COSM6307311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143489G>T , CM000666.2:g.185143489G>T | GRCh38 |
| NC_000004.11:g.186064643G>T , CM000666.1:g.186064643G>T | GRCh37 |
| NC_000004.10:g.186301637G>T | NCBI36 |
| NG_013001.1:g.5227G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.111+6G>T MANE Select | ENSP00000281456.5:n.111+6G>T | |
| ENST00000281456.10:c.111+6G>T | ENSP00000281456.5:n.111+6G>T | |
| ENST00000491736.1:c.111+6G>T | ENSP00000476711.1:n.111+6G>T | |
| NM_001151.3:c.111+6G>T | NP_001142.2:n.111+6G>T | |
| NM_001151.4:c.111+6G>T MANE Select | NP_001142.2:n.111+6G>T |