Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443293G>A , CM000668.2:g.32443293G>A | GRCh38 |
| NC_000006.11:g.32411070G>A , CM000668.1:g.32411070G>A | GRCh37 |
| NC_000006.10:g.32519048G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.437G>A MANE Select | ENSP00000378786.2:p.Trp146Ter | |
| ENST00000374982.5:c.362G>A | ENSP00000364121.5:p.Trp121Ter | |
| ENST00000395388.6:c.437G>A | ENSP00000378786.2:p.Trp146Ter | |
| NM_019111.4:c.437G>A | NP_061984.2:p.Trp146Ter | |
| NM_019111.5:c.437G>A MANE Select | NP_061984.2:p.Trp146Ter |