Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526869C= , CM000681.2:g.7526869C= | GRCh38 |
| NC_000019.9:g.7591755C= , CM000681.1:g.7591755C= | GRCh37 |
| NC_000019.8:g.7497755C= | NCBI36 |
| NG_015806.1:g.9260C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.514C= MANE Select | NP_065394.1:p.Arg172= |
| ENST00000264079.11:c.514C= MANE Select | ENSP00000264079.5:p.Arg172= |
| NM_020533.2:c.514C= | NP_065394.1:p.Arg172= |
| ENST00000264079.10:c.514C= | ENSP00000264079.5:p.Arg172= |
| ENST00000394321.9:n.594C= | |
| ENST00000596008.1:n.476C= | |
| ENST00000598406.1:n.335C= | |
| ENST00000601003.1:c.514C= | ENSP00000469074.1:p.Arg172= |