Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42184902C>T , CM000668.2:g.42184902C>T | GRCh38 |
| NC_000006.11:g.42152640C>T , CM000668.1:g.42152640C>T | GRCh37 |
| NC_000006.10:g.42260618C>T | NCBI36 |
| NG_016216.1:g.15055G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002098.6:c.516G>A MANE Select | NP_002089.4:p.Arg172= |
| ENST00000230361.4:c.516G>A MANE Select | ENSP00000230361.3:p.Arg172= |
| NM_002098.5:c.516G>A | NP_002089.4:p.Arg172= |
| ENST00000230361.3:c.516G>A | ENSP00000230361.3:p.Arg172= |
| XM_011514540.1:c.312G>A | XP_011512842.1:p.Arg104= |