Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122077514G>T , CM000667.2:g.122077514G>T | GRCh38 |
| NC_000005.9:g.121413209G>T , CM000667.1:g.121413209G>T | GRCh37 |
| NC_000005.8:g.121441108G>T | NCBI36 |
| NG_008722.1:g.5847C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002317.7:c.472C>A MANE Select | NP_002308.2:p.Arg158= |
| ENST00000231004.5:c.472C>A MANE Select | ENSP00000231004.4:p.Arg158= |
| NM_002317.5:c.472C>A | NP_002308.2:p.Arg158= |
| NM_002317.6:c.472C>A | NP_002308.2:p.Arg158= |
| ENST00000231004.4:c.472C>A | ENSP00000231004.4:p.Arg158= |
| ENST00000639739.2:c.472C>A | ENSP00000492324.2:p.Arg158= |