Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134473357A>T , CM000685.2:g.134473357A>T | GRCh38 |
| NC_000023.10:g.133607387A>T , CM000685.1:g.133607387A>T | GRCh37 |
| NC_000023.9:g.133435053A>T | NCBI36 |
| NG_012329.1:g.18213A>T | |
| NG_012329.2:g.18213A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.28-2A>T MANE Select | NP_000185.1:n.28-2A>T |
| ENST00000298556.8:c.28-2A>T MANE Select | ENSP00000298556.7:n.28-2A>T |
| NM_000194.2:c.28-2A>T | NP_000185.1:n.28-2A>T |
| ENST00000298556.7:c.28-2A>T | ENSP00000298556.7:n.28-2A>T |
| ENST00000462974.5:n.186-2A>T | |
| XM_011531328.1:c.46-2A>T | XP_011529630.1:n.46-2A>T |