Linked Data
dbSNP Id:
rs754080261
ExAC:
6:32411684 G / T
gnomAD v2:
6-32411684-G-T
gnomAD v4:
6-32443907-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443907G>T , CM000668.2:g.32443907G>T | GRCh38 |
| NC_000006.11:g.32411684G>T , CM000668.1:g.32411684G>T | GRCh37 |
| NC_000006.10:g.32519662G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.762G>T MANE Select | ENSP00000378786.2:p.Leu254= | |
| ENST00000374982.5:c.687G>T | ENSP00000364121.5:p.Leu229= | |
| ENST00000395388.6:c.762G>T | ENSP00000378786.2:p.Leu254= | |
| NM_019111.4:c.762G>T | NP_061984.2:p.Leu254= | |
| NM_019111.5:c.762G>T MANE Select | NP_061984.2:p.Leu254= |