Linked Data
dbSNP Id:
rs772053650
ExAC:
3:30713360 T / A
gnomAD v2:
3-30713360-T-A
gnomAD v4:
3-30671868-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30671868T>A , CM000665.2:g.30671868T>A | GRCh38 |
| NC_000003.11:g.30713360T>A , CM000665.1:g.30713360T>A | GRCh37 |
| NC_000003.10:g.30688364T>A | NCBI36 |
| NG_007490.1:g.70367T>A , LRG_779:g.70367T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.685T>A MANE Select | ENSP00000295754.5:p.Ser229Thr | |
| ENST00000672866.1:n.2281T>A | ||
| ENST00000295754.9:c.685T>A | ENSP00000295754.5:p.Ser229Thr | |
| ENST00000359013.4:c.760T>A | ENSP00000351905.4:p.Ser254Thr | |
| NM_001024847.2:c.760T>A , LRG_779t1:c.760T>A | NP_001020018.1:p.Ser254Thr | |
| NM_003242.5:c.685T>A | NP_003233.4:p.Ser229Thr | |
| XM_011534043.1:c.712T>A | XP_011532345.1:p.Ser238Thr | |
| XM_011534044.1:c.637T>A | XP_011532346.1:p.Ser213Thr | |
| XM_011534045.1:c.580T>A | XP_011532347.1:p.Ser194Thr | |
| XM_011534043.2:c.712T>A | XP_011532345.1:p.Ser238Thr | |
| XM_011534045.3:c.580T>A | XP_011532347.1:p.Ser194Thr | |
| XM_017007106.1:c.580T>A | XP_016862595.1:p.Ser194Thr | |
| NM_003242.6:c.685T>A MANE Select | NP_003233.4:p.Ser229Thr |