Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24205035A>G , CM000668.2:g.24205035A>G | GRCh38 |
| NC_000006.11:g.24205263A>G , CM000668.1:g.24205263A>G | GRCh37 |
| NC_000006.10:g.24313242A>G | NCBI36 |
| NG_012829.1:g.158018T>C | |
| NG_012829.2:g.183258T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.990T>C MANE Select | ENSP00000367715.3:p.Asp330= | |
| ENST00000378450.6:c.249T>C | ENSP00000367711.3:p.Asp83= | |
| ENST00000378454.7:c.990T>C | ENSP00000367715.3:p.Asp330= | |
| NM_001195610.1:c.990T>C | NP_001182539.1:p.Asp330= | |
| NM_016356.4:c.990T>C | NP_057440.2:p.Asp330= | |
| NM_016356.5:c.990T>C MANE Select | NP_057440.2:p.Asp330= | |
| NM_001195610.2:c.990T>C | NP_001182539.1:p.Asp330= |