Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130452T>G , CM000668.2:g.18130452T>G | GRCh38 |
| NC_000006.11:g.18130683T>G , CM000668.1:g.18130683T>G | GRCh37 |
| NC_000006.10:g.18238662T>G | NCBI36 |
| NG_012137.2:g.29692A>C | |
| NG_012137.3:g.29692A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.*216A>C MANE Select | ENSP00000312304.4:n.*216A>C | |
| ENST00000309983.4:c.*216A>C | ENSP00000312304.4:n.*216A>C | |
| NM_000367.3:c.*216A>C | NP_000358.1:n.*216A>C | |
| XM_011514839.1:c.*216A>C | XP_011513141.1:n.*216A>C | |
| XM_011514840.1:c.*216A>C | XP_011513142.1:n.*216A>C | |
| NM_000367.4:c.*216A>C | NP_000358.1:n.*216A>C | |
| NM_001346817.1:c.*216A>C | NP_001333746.1:n.*216A>C | |
| NM_001346818.1:c.*216A>C | NP_001333747.1:n.*216A>C | |
| NM_000367.5:c.*216A>C MANE Select | NP_000358.1:n.*216A>C |