Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69227316C>T , CM000672.2:g.69227316C>T | GRCh38 |
| NC_000010.10:g.70987072C>T , CM000672.1:g.70987072C>T | GRCh37 |
| NC_000010.9:g.70657078C>T | NCBI36 |
| NG_051555.1:g.12014C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025130.4:c.173C>T MANE Select | NP_079406.4:p.Thr58Met |
| ENST00000354624.6:c.173C>T MANE Select | ENSP00000346643.5:p.Thr58Met |
| NM_025130.3:c.173C>T | NP_079406.3:p.Thr58Met |
| NR_120648.1:n.121-1330G>A | |
| ENST00000354624.5:c.173C>T | ENSP00000346643.5:p.Thr58Met |
| XM_011540195.1:c.173C>T | XP_011538497.1:p.Thr58Met |
| XM_011540195.2:c.173C>T | XP_011538497.1:p.Thr58Met |
| XR_001747209.1:n.306C>T | |
| XR_945818.1:n.306C>T |