Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46601141C>A , CM000683.2:g.46601141C>A | GRCh38 |
| NC_000021.8:g.48021054C>A , CM000683.1:g.48021054C>A | GRCh37 |
| NC_000021.7:g.46845482C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006272.3:c.138+1137G>T MANE Select | NP_006263.1:n.138+1137G>T |
| ENST00000291700.9:c.138+1137G>T MANE Select | ENSP00000291700.4:n.138+1137G>T |
| NM_006272.2:c.138+1137G>T | NP_006263.1:n.138+1137G>T |
| ENST00000291700.8:c.138+1137G>T | ENSP00000291700.4:n.138+1137G>T |
| ENST00000367071.4:c.139-766G>T | ENSP00000356038.4:n.139-766G>T |
| ENST00000397648.1:c.138+1137G>T | ENSP00000380769.1:n.138+1137G>T |
| XM_017028424.2:c.138+1137G>T | XP_016883913.1:n.138+1137G>T |