Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46927610G>A , CM000666.2:g.46927610G>A | GRCh38 |
| NC_000004.11:g.46929627G>A , CM000666.1:g.46929627G>A | GRCh37 |
| NC_000004.10:g.46624384G>A | NCBI36 |
| NG_011809.1:g.70954C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264318.4:c.*615C>T MANE Select | ENSP00000264318.3:n.*615C>T | |
| ENST00000264318.3:c.*615C>T | ENSP00000264318.3:n.*615C>T | |
| NM_000809.3:c.*615C>T | NP_000800.2:n.*615C>T | |
| NM_001204266.1:c.*615C>T | NP_001191195.1:n.*615C>T | |
| NM_001204267.1:c.*615C>T | NP_001191196.1:n.*615C>T | |
| XM_011513677.1:c.*615C>T | XP_011511979.1:n.*615C>T | |
| NM_000809.4:c.*615C>T MANE Select | NP_000800.2:n.*615C>T | |
| NM_001204266.2:c.*615C>T | NP_001191195.1:n.*615C>T | |
| NM_001204267.2:c.*615C>T | NP_001191196.1:n.*615C>T |