Linked Data
dbSNP Id:
rs1233252259
gnomAD v2:
3-119133246-T-A
gnomAD v3:
3-119414399-T-A
gnomAD v4:
3-119414399-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414399T>A , CM000665.2:g.119414399T>A | GRCh38 |
| NC_000003.11:g.119133246T>A , CM000665.1:g.119133246T>A | GRCh37 |
| NC_000003.10:g.120615936T>A | NCBI36 |
| NG_007665.2:g.125027T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2470T>A MANE Select | ENSP00000264245.4:p.Ser824Thr | |
| ENST00000264245.8:c.2470T>A | ENSP00000264245.4:p.Ser824Thr | |
| NM_020754.3:c.2470T>A | NP_065805.2:p.Ser824Thr | |
| XM_005247671.3:c.2377T>A | XP_005247728.1:p.Ser793Thr | |
| XM_006713714.2:c.2410T>A | XP_006713777.1:p.Ser804Thr | |
| XM_006713714.3:c.2410T>A | XP_006713777.1:p.Ser804Thr | |
| XM_017006955.1:c.1978T>A | XP_016862444.1:p.Ser660Thr | |
| NM_020754.4:c.2470T>A MANE Select | NP_065805.2:p.Ser824Thr |