Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93104123C>A , CM000669.2:g.93104123C>A | GRCh38 |
| NC_000007.13:g.92733436C>A , CM000669.1:g.92733436C>A | GRCh37 |
| NC_000007.12:g.92571372C>A | NCBI36 |
| NG_023419.1:g.18901G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.1975G>T MANE Select | ENSP00000369292.2:p.Glu659Ter | |
| ENST00000379958.2:c.1975G>T | ENSP00000369292.2:p.Glu659Ter | |
| ENST00000446617.1:c.1975G>T | ENSP00000414529.1:p.Glu659Ter | |
| ENST00000620985.4:c.1975G>T | ENSP00000484636.1:p.Glu659Ter | |
| NM_001193307.1:c.1975G>T | NP_001180236.1:p.Glu659Ter | |
| NM_017654.3:c.1975G>T | NP_060124.2:p.Glu659Ter | |
| NM_017654.4:c.1975G>T MANE Select | NP_060124.2:p.Glu659Ter | |
| NM_001193307.2:c.1975G>T | NP_001180236.1:p.Glu659Ter |