Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141955008G>A , CM000667.2:g.141955008G>A | GRCh38 |
| NC_000005.9:g.141334573G>A , CM000667.1:g.141334573G>A | GRCh37 |
| NC_000005.8:g.141314757G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016580.4:c.2844C>T MANE Select | NP_057664.1:p.Pro948= |
| ENST00000231484.4:c.2844C>T MANE Select | ENSP00000231484.3:p.Pro948= |
| NM_016580.3:c.2844C>T | NP_057664.1:p.Pro948= |
| ENST00000231484.3:c.2844C>T | ENSP00000231484.3:p.Pro948= |
| XM_024446106.1:c.2844C>T | XP_024301874.1:p.Pro948= |
| XR_944366.1:n.3117+145G>A |