Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130640G>A , CM000668.2:g.18130640G>A | GRCh38 |
| NC_000006.11:g.18130871G>A , CM000668.1:g.18130871G>A | GRCh37 |
| NC_000006.10:g.18238850G>A | NCBI36 |
| NG_012137.2:g.29504C>T | |
| NG_012137.3:g.29504C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309983.5:c.*28C>T MANE Select | ENSP00000312304.4:n.*28C>T | |
| ENST00000309983.4:c.*28C>T | ENSP00000312304.4:n.*28C>T | |
| NM_000367.3:c.*28C>T | NP_000358.1:n.*28C>T | |
| XM_011514839.1:c.*28C>T | XP_011513141.1:n.*28C>T | |
| XM_011514840.1:c.*28C>T | XP_011513142.1:n.*28C>T | |
| NM_000367.4:c.*28C>T | NP_000358.1:n.*28C>T | |
| NM_001346817.1:c.*28C>T | NP_001333746.1:n.*28C>T | |
| NM_001346818.1:c.*28C>T | NP_001333747.1:n.*28C>T | |
| NM_000367.5:c.*28C>T MANE Select | NP_000358.1:n.*28C>T |