Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969400T>G , CM000685.2:g.154969400T>G | GRCh38 |
| NC_000023.10:g.154197675T>G , CM000685.1:g.154197675T>G | GRCh37 |
| NC_000023.9:g.153850869T>G | NCBI36 |
| NG_011403.1:g.58324A>C | |
| NG_011403.2:g.58324A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.940A>C MANE Select | NP_000123.1:p.Thr314Pro |
| ENST00000360256.9:c.940A>C MANE Select | ENSP00000353393.4:p.Thr314Pro |
| NM_000132.3:c.940A>C | NP_000123.1:p.Thr314Pro |
| ENST00000360256.8:c.940A>C | ENSP00000353393.4:p.Thr314Pro |
| ENST00000647125.1:c.*816A>C | ENSP00000496062.1:n.*816A>C |
| XM_011531126.1:c.835A>C | XP_011529428.1:p.Thr279Pro |