Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29313006A>C , CM000684.2:g.29313006A>C | GRCh38 |
| NC_000022.10:g.29708995A>C , CM000684.1:g.29708995A>C | GRCh37 |
| NC_000022.9:g.28038995A>C | NCBI36 |
| NG_032959.1:g.11000A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216101.7:c.*295T>G MANE Select | ENSP00000216101.6:n.*295T>G | |
| ENST00000216101.6:c.*295T>G | ENSP00000216101.6:n.*295T>G | |
| ENST00000401450.3:c.*853T>G | ENSP00000386095.3:n.*853T>G | |
| NM_006477.4:c.*295T>G | NP_006468.1:n.*295T>G | |
| XM_011529821.1:c.*295T>G | XP_011528123.1:n.*295T>G | |
| XM_011529822.1:c.*295T>G | XP_011528124.1:n.*295T>G | |
| XM_011529823.1:c.*295T>G | XP_011528125.1:n.*295T>G | |
| NM_006477.5:c.*295T>G MANE Select | NP_006468.1:n.*295T>G |