Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698388C>T , CM000668.2:g.42698388C>T | GRCh38 |
| NC_000006.11:g.42666126C>T , CM000668.1:g.42666126C>T | GRCh37 |
| NC_000006.10:g.42774104C>T | NCBI36 |
| NG_009176.1:g.29233G>A | |
| NG_009176.2:g.29233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.948G>A MANE Select | ENSP00000230381.5:p.Trp316Ter | |
| ENST00000230381.6:c.948G>A | ENSP00000230381.5:p.Trp316Ter | |
| NM_000322.4:c.948G>A | NP_000313.2:p.Trp316Ter | |
| XR_926295.3:n.1835G>A | ||
| NM_000322.5:c.948G>A MANE Select | NP_000313.2:p.Trp316Ter |