Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.2999495A= , CM000668.2:g.2999495A= | GRCh38 |
| NC_000006.11:g.2999729A= , CM000668.1:g.2999729A= | GRCh37 |
| NC_000006.10:g.2944728A= | NCBI36 |
| NG_034013.1:g.4680A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380472.7:c.-86+5442A= | ENSP00000369839.3:n.-86+5442A= | |
| ENST00000426637.5:c.-86+5442A= | ENSP00000406951.1:n.-86+5442A= | |
| XM_011514643.1:c.-600-2555A= | XP_011512945.1:n.-600-2555A= | |
| XM_011514644.1:c.-86+5442A= | XP_011512946.1:n.-86+5442A= | |
| XM_011514646.1:c.-86+451A= | XP_011512948.1:n.-86+451A= |