Linked Data
dbSNP Id:
rs368601450
ExAC:
6:32411555 C / G
gnomAD v2:
6-32411555-C-G
gnomAD v4:
6-32443778-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443778C>G , CM000668.2:g.32443778C>G | GRCh38 |
| NC_000006.11:g.32411555C>G , CM000668.1:g.32411555C>G | GRCh37 |
| NC_000006.10:g.32519533C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395388.7:c.633C>G MANE Select | ENSP00000378786.2:p.Leu211= | |
| ENST00000374982.5:c.558C>G | ENSP00000364121.5:p.Leu186= | |
| ENST00000395388.6:c.633C>G | ENSP00000378786.2:p.Leu211= | |
| NM_019111.4:c.633C>G | NP_061984.2:p.Leu211= | |
| NM_019111.5:c.633C>G MANE Select | NP_061984.2:p.Leu211= |