Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43163242A>C , CM000684.2:g.43163242A>C | GRCh38 |
| NC_000022.10:g.43559248A>C , CM000684.1:g.43559248A>C | GRCh37 |
| NC_000022.9:g.41889192A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.*251A>C MANE Select | ENSP00000338004.3:n.*251A>C | |
| ENST00000337554.7:c.*251A>C | ENSP00000338004.3:n.*251A>C | |
| NM_000714.5:c.*251A>C | NP_000705.2:n.*251A>C | |
| NM_001256530.1:c.*251A>C | NP_001243459.1:n.*251A>C | |
| NM_001256531.1:c.*251A>C | NP_001243460.1:n.*251A>C | |
| NR_046308.1:n.670A>C | ||
| NM_000714.6:c.*251A>C MANE Select | NP_000705.2:n.*251A>C | |
| NR_046308.2:n.625A>C |