Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022510G>A , CM000685.2:g.155022510G>A | GRCh38 |
| NC_000023.10:g.154250785G>A , CM000685.1:g.154250785G>A | GRCh37 |
| NC_000023.9:g.153903979G>A | NCBI36 |
| NG_011403.1:g.5214C>T | |
| NG_011403.2:g.5214C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.43C>T MANE Select | NP_000123.1:p.Arg15Ter |
| ENST00000360256.9:c.43C>T MANE Select | ENSP00000353393.4:p.Arg15Ter |
| NM_000132.3:c.43C>T | NP_000123.1:p.Arg15Ter |
| ENST00000360256.8:c.43C>T | ENSP00000353393.4:p.Arg15Ter |
| ENST00000423959.5:c.38+4270C>T | ENSP00000409446.1:n.38+4270C>T |
| ENST00000453950.1:c.39-14C>T | ENSP00000389153.1:n.39-14C>T |
| ENST00000647125.1:c.43C>T | ENSP00000496062.1:p.Arg15Ter |
| XM_011531126.1:c.38+4270C>T | XP_011529428.1:n.38+4270C>T |