Linked Data
dbSNP Id:
rs773309037
ExAC:
3:8787497 G / T
gnomAD v2:
3-8787497-G-T
gnomAD v4:
3-8745811-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745811G>T , CM000665.2:g.8745811G>T | GRCh38 |
| NC_000003.11:g.8787497G>T , CM000665.1:g.8787497G>T | GRCh37 |
| NC_000003.10:g.8762497G>T | NCBI36 |
| NG_008797.2:g.17002G>T , LRG_329:g.17002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.400G>T MANE Select | ENSP00000341940.2:p.Ala134Ser | |
| ENST00000343849.2:c.400G>T | ENSP00000341940.2:p.Ala134Ser | |
| ENST00000397368.2:c.400G>T | ENSP00000380525.2:p.Ala134Ser | |
| ENST00000472766.1:n.155+11821G>T | ||
| NM_001234.4:c.400G>T | NP_001225.1:p.Ala134Ser | |
| NM_033337.2:c.400G>T , LRG_329t1:c.400G>T | NP_203123.1:p.Ala134Ser | |
| NM_001234.5:c.400G>T | NP_001225.1:p.Ala134Ser | |
| NM_033337.3:c.400G>T MANE Select | NP_203123.1:p.Ala134Ser |