Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216175204T>A , CM000663.2:g.216175204T>A | GRCh38 |
| NC_000001.10:g.216348546T>A , CM000663.1:g.216348546T>A | GRCh37 |
| NC_000001.9:g.214415169T>A | NCBI36 |
| NG_009497.1:g.253193A>T | |
| NG_009497.2:g.253245A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.4627+48A>T MANE Select | NP_996816.3:n.4627+48A>T |
| ENST00000307340.8:c.4627+48A>T MANE Select | ENSP00000305941.3:n.4627+48A>T |
| NM_007123.5:c.*34A>T | NP_009054.5:n.*34A>T |
| NM_007123.6:c.*34A>T | NP_009054.6:n.*34A>T |
| NM_206933.2:c.4627+48A>T | NP_996816.2:n.4627+48A>T |
| NM_206933.3:c.4627+48A>T | NP_996816.2:n.4627+48A>T |
| ENST00000307340.7:c.4627+48A>T | ENSP00000305941.3:n.4627+48A>T |
| ENST00000366942.3:c.*34A>T | ENSP00000355909.3:n.*34A>T |
| ENST00000674083.1:c.4627+48A>T | ENSP00000501296.1:n.4627+48A>T |