Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24205008G>A , CM000668.2:g.24205008G>A | GRCh38 |
| NC_000006.11:g.24205236G>A , CM000668.1:g.24205236G>A | GRCh37 |
| NC_000006.10:g.24313215G>A | NCBI36 |
| NG_012829.1:g.158045C>T | |
| NG_012829.2:g.183285C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016356.5:c.1017C>T MANE Select | NP_057440.2:p.Val339= |
| ENST00000378454.8:c.1017C>T MANE Select | ENSP00000367715.3:p.Val339= |
| NM_001195610.1:c.1017C>T | NP_001182539.1:p.Val339= |
| NM_001195610.2:c.1017C>T | NP_001182539.1:p.Val339= |
| NM_016356.4:c.1017C>T | NP_057440.2:p.Val339= |
| ENST00000378450.6:c.276C>T | ENSP00000367711.3:p.Val92= |
| ENST00000378454.7:c.1017C>T | ENSP00000367715.3:p.Val339= |