Linked Data
dbSNP Id:
rs1213113921
gnomAD v2:
6-32411218-G-A
gnomAD v3:
6-32443441-G-A
gnomAD v4:
6-32443441-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443441G>A , CM000668.2:g.32443441G>A | GRCh38 |
| NC_000006.11:g.32411218G>A , CM000668.1:g.32411218G>A | GRCh37 |
| NC_000006.10:g.32519196G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.585G>A MANE Select | ENSP00000378786.2:p.Leu195= | |
| ENST00000374982.5:c.510G>A | ENSP00000364121.5:p.Leu170= | |
| ENST00000395388.6:c.585G>A | ENSP00000378786.2:p.Leu195= | |
| NM_019111.4:c.585G>A | NP_061984.2:p.Leu195= | |
| NM_019111.5:c.585G>A MANE Select | NP_061984.2:p.Leu195= |