Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17825691G>T , CM000681.2:g.17825691G>T | GRCh38 |
| NC_000019.9:g.17936500G>T , CM000681.1:g.17936500G>T | GRCh37 |
| NC_000019.8:g.17797500G>T | NCBI36 |
| NG_007273.1:g.27301C>A , LRG_77:g.27301C>A | |
| NG_012092.1:g.821C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696967.1:n.3604C>A | ||
| ENST00000696968.1:n.1660C>A | ||
| ENST00000458235.7:c.*1052C>A MANE Select | ENSP00000391676.1:n.*1052C>A | |
| ENST00000458235.5:c.*1052C>A | ENSP00000391676.1:n.*1052C>A | |
| ENST00000527031.5:n.2279-381C>A | ||
| NM_000215.3:c.*1052C>A , LRG_77t1:c.*1052C>A | NP_000206.2:n.*1052C>A | |
| XM_005259896.2:c.*1052C>A | XP_005259953.1:n.*1052C>A | |
| XM_005259896.3:c.*1052C>A | XP_005259953.1:n.*1052C>A | |
| NM_000215.4:c.*1052C>A MANE Select | NP_000206.2:n.*1052C>A |