Linked Data
dbSNP Id:
rs769263469
ExAC:
1:207697145 G / C
gnomAD v2:
1-207697145-G-C
gnomAD v3:
1-207523800-G-C
gnomAD v4:
1-207523800-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207523800G>C , CM000663.2:g.207523800G>C | GRCh38 |
| NC_000001.10:g.207697145G>C , CM000663.1:g.207697145G>C | GRCh37 |
| NC_000001.9:g.205763768G>C | NCBI36 |
| NG_007481.1:g.32673G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.677G>C MANE Select | ENSP00000356016.4:p.Ser226Thr | |
| ENST00000367051.6:c.487+12146G>C | ENSP00000356018.1:n.487+12146G>C | |
| ENST00000367052.6:c.677G>C | ENSP00000356019.1:p.Ser226Thr | |
| ENST00000367053.6:c.677G>C | ENSP00000356020.1:p.Ser226Thr | |
| ENST00000400960.7:c.677G>C | ENSP00000383744.2:p.Ser226Thr | |
| ENST00000367049.8:c.677G>C | ENSP00000356016.4:p.Ser226Thr | |
| ENST00000367050.8:n.798G>C | ||
| ENST00000367051.5:c.487+12146G>C | ENSP00000356018.1:n.487+12146G>C | |
| ENST00000367052.5:c.677G>C | ENSP00000356019.1:p.Ser226Thr | |
| ENST00000367053.5:c.677G>C | ENSP00000356020.1:p.Ser226Thr | |
| ENST00000400960.6:c.677G>C | ENSP00000383744.2:p.Ser226Thr | |
| ENST00000434033.5:n.604G>C | ||
| ENST00000436595.1:n.414+12146G>C | ||
| ENST00000450439.5:n.604G>C | ||
| ENST00000529814.1:c.604G>C | ||
| ENST00000534202.5:c.677G>C | ENSP00000436139.2:p.Ser226Thr | |
| NM_000573.3:c.677G>C | NP_000564.2:p.Ser226Thr | |
| NM_000651.4:c.677G>C | NP_000642.3:p.Ser226Thr | |
| XM_006711166.2:c.692G>C | XP_006711229.1:p.Ser231Thr | |
| XM_011509205.1:c.692G>C | XP_011507507.1:p.Ser231Thr | |
| NM_000651.5:c.677G>C | NP_000642.3:p.Ser226Thr | |
| XM_024453287.1:c.692G>C | XP_024309055.1:p.Ser231Thr | |
| NM_000573.4:c.677G>C | NP_000564.2:p.Ser226Thr | |
| NM_000651.6:c.677G>C MANE Select | NP_000642.3:p.Ser226Thr |