Linked Data
dbSNP Id:
rs1161402291
gnomAD v2:
19-9325064-G-A
gnomAD v4:
19-9214388-G-A
COSMIC:
COSM4128044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214388G>A , CM000681.2:g.9214388G>A | GRCh38 |
| NC_000019.9:g.9325064G>A , CM000681.1:g.9325064G>A | GRCh37 |
| NC_000019.8:g.9186064G>A | NCBI36 |
| NG_027953.1:g.5484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.450C>T | ENSP00000493404.1:p.Phe150= | |
| ENST00000641669.1:c.450C>T MANE Select | ENSP00000493383.1:p.Phe150= | |
| ENST00000308682.3:c.450C>T | ENSP00000310488.2:p.Phe150= | |
| NM_001005191.2:c.450C>T | NP_001005191.1:p.Phe150= | |
| NM_001005191.3:c.450C>T MANE Select | NP_001005191.1:p.Phe150= |