Linked Data
dbSNP Id:
rs769456756
ExAC:
2:27308109 C / T
gnomAD v2:
2-27308109-C-T
gnomAD v3:
2-27085241-C-T
gnomAD v4:
2-27085241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085241C>T , CM000664.2:g.27085241C>T | GRCh38 |
| NC_000002.11:g.27308109C>T , CM000664.1:g.27308109C>T | GRCh37 |
| NC_000002.10:g.27161613C>T | NCBI36 |
| NG_012199.1:g.3499C>T | |
| NG_046849.1:g.11675C>T | |
| NG_012199.2:g.3499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2657C>T MANE Select | ENSP00000369677.4:p.Thr886Met | |
| ENST00000380320.8:c.2657C>T | ENSP00000369677.4:p.Thr886Met | |
| ENST00000433140.1:c.649C>T | ||
| NM_007046.3:c.2657C>T | NP_008977.1:p.Thr886Met | |
| XM_006711928.2:c.2575+233C>T | XP_006711991.1:n.2575+233C>T | |
| NM_007046.4:c.2657C>T MANE Select | NP_008977.1:p.Thr886Met |