Linked Data
dbSNP Id:
rs1220296487
gnomAD v2:
1-171621301-C-A
gnomAD v3:
1-171652161-C-A
gnomAD v4:
1-171652161-C-A
COSMIC:
COSM6122733
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652161C>A , CM000663.2:g.171652161C>A | GRCh38 |
| NC_000001.10:g.171621301C>A , CM000663.1:g.171621301C>A | GRCh37 |
| NC_000001.9:g.169887924C>A | NCBI36 |
| NG_008859.1:g.5473G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.451G>T MANE Select | ENSP00000037502.5:p.Val151Phe | |
| ENST00000638471.1:c.130+321G>T | ENSP00000491206.1:n.130+321G>T | |
| ENST00000037502.10:c.451G>T | ENSP00000037502.5:p.Val151Phe | |
| ENST00000614688.1:c.451G>T | ENSP00000478680.1:p.Val151Phe | |
| NM_000261.1:c.451G>T | NP_000252.1:p.Val151Phe | |
| NM_000261.2:c.451G>T MANE Select | NP_000252.1:p.Val151Phe |