Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35498049G>A , CM000668.2:g.35498049G>A | GRCh38 |
| NC_000006.11:g.35465826G>A , CM000668.1:g.35465826G>A | GRCh37 |
| NC_000006.10:g.35573804G>A | NCBI36 |
| NG_009077.1:g.19822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.*278C>T MANE Select | ENSP00000229771.6:n.*278C>T | |
| ENST00000229771.10:c.*278C>T | ENSP00000229771.6:n.*278C>T | |
| ENST00000322263.8:c.*278C>T | ENSP00000319414.4:n.*278C>T | |
| ENST00000614066.4:c.*278C>T | ENSP00000477534.1:n.*278C>T | |
| NM_001289395.1:c.*278C>T | NP_001276324.1:n.*278C>T | |
| NM_003322.4:c.*278C>T | NP_003313.3:n.*278C>T | |
| NM_003322.5:c.*278C>T | NP_003313.3:n.*278C>T | |
| NM_003322.6:c.*278C>T MANE Select | NP_003313.3:n.*278C>T | |
| NM_001289395.2:c.*278C>T | NP_001276324.1:n.*278C>T |