Linked Data
dbSNP Id:
rs747164620
ExAC:
6:32411018 G / A
gnomAD v2:
6-32411018-G-A
gnomAD v4:
6-32443241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443241G>A , CM000668.2:g.32443241G>A | GRCh38 |
| NC_000006.11:g.32411018G>A , CM000668.1:g.32411018G>A | GRCh37 |
| NC_000006.10:g.32518996G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.385G>A MANE Select | ENSP00000378786.2:p.Val129Ile | |
| ENST00000374982.5:c.329-19G>A | ENSP00000364121.5:n.329-19G>A | |
| ENST00000395388.6:c.385G>A | ENSP00000378786.2:p.Val129Ile | |
| NM_019111.4:c.385G>A | NP_061984.2:p.Val129Ile | |
| NM_019111.5:c.385G>A MANE Select | NP_061984.2:p.Val129Ile |