Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96408240A>G , CM000667.2:g.96408240A>G | GRCh38 |
| NC_000005.9:g.95743944A>G , CM000667.1:g.95743944A>G | GRCh37 |
| NC_000005.8:g.95769700A>G | NCBI36 |
| NG_021161.1:g.30042T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000439.5:c.1179T>C MANE Select | NP_000430.3:p.Ala393= |
| ENST00000311106.8:c.1179T>C MANE Select | ENSP00000308024.2:p.Ala393= |
| NM_000439.4:c.1179T>C | NP_000430.3:p.Ala393= |
| NM_001177875.1:c.1038T>C | NP_001171346.1:p.Ala346= |
| NM_001177875.2:c.1038T>C | NP_001171346.1:p.Ala346= |
| NR_130776.1:n.354+28588A>G | |
| ENST00000311106.7:c.1179T>C | ENSP00000308024.2:p.Ala393= |
| ENST00000508626.5:c.1038T>C | ENSP00000421600.1:p.Ala346= |
| ENST00000513085.1:n.322T>C |