Linked Data
dbSNP Id:
rs1329788991
gnomAD v2:
6-32411577-G-A
gnomAD v4:
6-32443800-G-A
COSMIC:
COSM223075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443800G>A , CM000668.2:g.32443800G>A | GRCh38 |
| NC_000006.11:g.32411577G>A , CM000668.1:g.32411577G>A | GRCh37 |
| NC_000006.10:g.32519555G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.655G>A MANE Select | ENSP00000378786.2:p.Val219Met | |
| ENST00000374982.5:c.580G>A | ENSP00000364121.5:p.Val194Met | |
| ENST00000395388.6:c.655G>A | ENSP00000378786.2:p.Val219Met | |
| NM_019111.4:c.655G>A | NP_061984.2:p.Val219Met | |
| NM_019111.5:c.655G>A MANE Select | NP_061984.2:p.Val219Met |