Linked Data
gnomAD v4:
13-110170550-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110170550G>T , CM000675.2:g.110170550G>T | GRCh38 |
| NC_000013.10:g.110822897G>T , CM000675.1:g.110822897G>T | GRCh37 |
| NC_000013.9:g.109620898G>T | NCBI36 |
| NG_011544.2:g.141600C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3739C>A MANE Select | ENSP00000364979.4:p.Pro1247Thr | |
| ENST00000375820.8:c.3739C>A | ENSP00000364979.4:p.Pro1247Thr | |
| NM_001845.5:c.3739C>A | NP_001836.3:p.Pro1247Thr | |
| XM_011521048.1:c.3547C>A | XP_011519350.1:p.Pro1183Thr | |
| XM_011521048.2:c.3547C>A | XP_011519350.1:p.Pro1183Thr | |
| NM_001845.6:c.3739C>A MANE Select | NP_001836.3:p.Pro1247Thr |